Annotation Detail
Information
- Associated Genes
- TNNT2
- Associated Variants
-
TNNT2 p.Lys220del (p.K220del)
(
ENST00000438742.6,
ENST00000714312.1,
ENST00000367318.10,
ENST00000714316.2,
ENST00000714314.1,
ENST00000714313.1,
ENST00000367322.6,
ENST00000658476.1,
ENST00000367320.6,
ENST00000509001.5,
ENST00000422165.6,
ENST00000656932.1,
ENST00000660295.1,
ENST00000455702.7,
ENST00000714317.1,
ENST00000412633.3 )
TNNT2 p.Lys220del (p.K220del) ( ENST00000367318.10, ENST00000367320.6, ENST00000367322.6, ENST00000412633.3, ENST00000422165.6, ENST00000438742.6, ENST00000455702.7, ENST00000509001.5, ENST00000656932.1, ENST00000658476.1, ENST00000660295.1, ENST00000714312.1, ENST00000714313.1, ENST00000714314.1, ENST00000714316.2, ENST00000714317.1 )
TNNT2 p.Asp280Tyr (p.D280Y) ( ENST00000509001.5, ENST00000422165.6, ENST00000658476.1, ENST00000367322.6, ENST00000367320.6, ENST00000412633.3, ENST00000656932.1, ENST00000660295.1, ENST00000455702.7, ENST00000714317.1, ENST00000714316.2, ENST00000367318.10, ENST00000438742.6, ENST00000714314.1, ENST00000714313.1, ENST00000714312.1 )
TNNT2 p.Asp280Asn (p.D280N) ( ENST00000438742.6, ENST00000367318.10, ENST00000714316.2, ENST00000714312.1, ENST00000714313.1, ENST00000714314.1, ENST00000367322.6, ENST00000658476.1, ENST00000367320.6, ENST00000422165.6, ENST00000509001.5, ENST00000656932.1, ENST00000455702.7, ENST00000714317.1, ENST00000660295.1, ENST00000412633.3 )
TNNT2 p.Arg215Leu (p.R215L) ( ENST00000714313.1, ENST00000714314.1, ENST00000714312.1, ENST00000714316.2, ENST00000438742.6, ENST00000367318.10, ENST00000412633.3, ENST00000656932.1, ENST00000455702.7, ENST00000714317.1, ENST00000660295.1, ENST00000422165.6, ENST00000509001.5, ENST00000658476.1, ENST00000367322.6, ENST00000367320.6 )
TNNT2 p.Arg215Gln (p.R215Q) ( ENST00000509001.5, ENST00000422165.6, ENST00000367320.6, ENST00000367322.6, ENST00000658476.1, ENST00000412633.3, ENST00000660295.1, ENST00000455702.7, ENST00000714317.1, ENST00000656932.1, ENST00000714316.2, ENST00000367318.10, ENST00000438742.6, ENST00000714314.1, ENST00000714313.1, ENST00000714312.1 )
TNNT2 p.Arg183Gln (p.R183Q) ( ENST00000509001.5, ENST00000412633.3, ENST00000714316.2, ENST00000367318.10, ENST00000438742.6, ENST00000714314.1, ENST00000714313.1, ENST00000714312.1, ENST00000422165.6, ENST00000367322.6, ENST00000658476.1, ENST00000367320.6, ENST00000656932.1, ENST00000660295.1, ENST00000455702.7, ENST00000714317.1 )
TNNT2 p.Arg169Ter (p.R169*) ( ENST00000412633.3, ENST00000660295.1, ENST00000455702.7, ENST00000714317.1, ENST00000656932.1, ENST00000509001.5, ENST00000422165.6, ENST00000367320.6, ENST00000367322.6, ENST00000658476.1, ENST00000714314.1, ENST00000714313.1, ENST00000714312.1, ENST00000714316.2, ENST00000367318.10, ENST00000438742.6 )
TNNT2 p.Arg151Trp (p.R151W) ( ENST00000412633.3, ENST00000656932.1, ENST00000455702.7, ENST00000714317.1, ENST00000660295.1, ENST00000422165.6, ENST00000509001.5, ENST00000367322.6, ENST00000658476.1, ENST00000367320.6, ENST00000714313.1, ENST00000714314.1, ENST00000714312.1, ENST00000714316.2, ENST00000438742.6, ENST00000367318.10 )
TNNT2 p.Arg151= (p.R151=) ( ENST00000367320.6, ENST00000367322.6, ENST00000658476.1, ENST00000422165.6, ENST00000509001.5, ENST00000455702.7, ENST00000714317.1, ENST00000660295.1, ENST00000656932.1, ENST00000412633.3, ENST00000438742.6, ENST00000367318.10, ENST00000714316.2, ENST00000714312.1, ENST00000714313.1, ENST00000714314.1 )
TNNT2 p.Arg144Trp (p.R144W) ( ENST00000438742.6, ENST00000367318.10, ENST00000714316.2, ENST00000714312.1, ENST00000714313.1, ENST00000714314.1, ENST00000367320.6, ENST00000367322.6, ENST00000658476.1, ENST00000422165.6, ENST00000509001.5, ENST00000455702.7, ENST00000714317.1, ENST00000660295.1, ENST00000656932.1, ENST00000412633.3 )
TNNT2 p.Arg144Gly (p.R144G) ( ENST00000412633.3, ENST00000656932.1, ENST00000455702.7, ENST00000714317.1, ENST00000660295.1, ENST00000422165.6, ENST00000509001.5, ENST00000658476.1, ENST00000367322.6, ENST00000367320.6, ENST00000714313.1, ENST00000714314.1, ENST00000714312.1, ENST00000714316.2, ENST00000438742.6, ENST00000367318.10 )
TNNT2 p.Arg144= (p.R144=) ( ENST00000367318.10, ENST00000438742.6, ENST00000714316.2, ENST00000714312.1, ENST00000714314.1, ENST00000714313.1, ENST00000658476.1, ENST00000367322.6, ENST00000367320.6, ENST00000509001.5, ENST00000422165.6, ENST00000656932.1, ENST00000660295.1, ENST00000455702.7, ENST00000714317.1, ENST00000412633.3 )
TNNT2 p.Arg141Pro (p.R141P) ( ENST00000714314.1, ENST00000714313.1, ENST00000714312.1, ENST00000714316.2, ENST00000367318.10, ENST00000438742.6, ENST00000412633.3, ENST00000660295.1, ENST00000455702.7, ENST00000714317.1, ENST00000656932.1, ENST00000509001.5, ENST00000422165.6, ENST00000367320.6, ENST00000367322.6, ENST00000658476.1 )
TNNT2 p.Arg141Gln (p.R141Q) ( ENST00000714312.1, ENST00000714314.1, ENST00000714313.1, ENST00000367318.10, ENST00000438742.6, ENST00000714316.2, ENST00000660295.1, ENST00000455702.7, ENST00000714317.1, ENST00000656932.1, ENST00000412633.3, ENST00000367320.6, ENST00000367322.6, ENST00000658476.1, ENST00000509001.5, ENST00000422165.6 )
TNNT2 p.Arg141Trp (p.R141W) ( ENST00000422165.6, ENST00000509001.5, ENST00000658476.1, ENST00000367322.6, ENST00000367320.6, ENST00000412633.3, ENST00000656932.1, ENST00000455702.7, ENST00000714317.1, ENST00000660295.1, ENST00000714316.2, ENST00000438742.6, ENST00000367318.10, ENST00000714313.1, ENST00000714314.1, ENST00000714312.1 )
TNNT2 p.Glu128Lys (p.E128K) ( ENST00000367318.10, ENST00000438742.6, ENST00000714316.2, ENST00000714312.1, ENST00000714314.1, ENST00000714313.1, ENST00000367320.6, ENST00000658476.1, ENST00000367322.6, ENST00000509001.5, ENST00000422165.6, ENST00000660295.1, ENST00000455702.7, ENST00000714317.1, ENST00000656932.1, ENST00000412633.3 )
TNNT2 p.Asp98Glu (p.D98E) ( ENST00000422165.6, ENST00000509001.5, ENST00000658476.1, ENST00000367322.6, ENST00000367320.6, ENST00000412633.3, ENST00000656932.1, ENST00000455702.7, ENST00000714317.1, ENST00000660295.1, ENST00000714316.2, ENST00000438742.6, ENST00000367318.10, ENST00000714313.1, ENST00000714314.1, ENST00000714312.1 )
TNNT2 p.Ile89Asn (p.I89N) ( ENST00000412633.3, ENST00000656932.1, ENST00000455702.7, ENST00000714317.1, ENST00000660295.1, ENST00000422165.6, ENST00000509001.5, ENST00000658476.1, ENST00000367322.6, ENST00000367320.6, ENST00000714313.1, ENST00000714314.1, ENST00000714312.1, ENST00000714316.2, ENST00000438742.6, ENST00000367318.10 )
TNNT2 p.Asn83Ser (p.N83S) ( ENST00000656932.1, ENST00000660295.1, ENST00000455702.7, ENST00000714317.1, ENST00000412633.3, ENST00000367322.6, ENST00000658476.1, ENST00000367320.6, ENST00000509001.5, ENST00000422165.6, ENST00000714312.1, ENST00000714314.1, ENST00000714313.1, ENST00000367318.10, ENST00000438742.6, ENST00000714316.2 )
TNNT2 p.Asp280Tyr (p.D280Y) ( ENST00000367318.10, ENST00000367320.6, ENST00000367322.6, ENST00000412633.3, ENST00000422165.6, ENST00000438742.6, ENST00000455702.7, ENST00000509001.5, ENST00000656932.1, ENST00000658476.1, ENST00000660295.1, ENST00000714312.1, ENST00000714313.1, ENST00000714314.1, ENST00000714316.2, ENST00000714317.1 )
TNNT2 p.Asp280Asn (p.D280N) ( ENST00000367318.10, ENST00000367320.6, ENST00000367322.6, ENST00000412633.3, ENST00000422165.6, ENST00000438742.6, ENST00000455702.7, ENST00000509001.5, ENST00000656932.1, ENST00000658476.1, ENST00000660295.1, ENST00000714312.1, ENST00000714313.1, ENST00000714314.1, ENST00000714316.2, ENST00000714317.1 )
TNNT2 p.Arg215Leu (p.R215L) ( ENST00000367318.10, ENST00000367320.6, ENST00000367322.6, ENST00000412633.3, ENST00000422165.6, ENST00000438742.6, ENST00000455702.7, ENST00000509001.5, ENST00000656932.1, ENST00000658476.1, ENST00000660295.1, ENST00000714312.1, ENST00000714313.1, ENST00000714314.1, ENST00000714316.2, ENST00000714317.1 )
TNNT2 p.Arg215Gln (p.R215Q) ( ENST00000367318.10, ENST00000367320.6, ENST00000367322.6, ENST00000412633.3, ENST00000422165.6, ENST00000438742.6, ENST00000455702.7, ENST00000509001.5, ENST00000656932.1, ENST00000658476.1, ENST00000660295.1, ENST00000714312.1, ENST00000714313.1, ENST00000714314.1, ENST00000714316.2, ENST00000714317.1 )
TNNT2 p.Arg183Gln (p.R183Q) ( ENST00000367318.10, ENST00000367320.6, ENST00000367322.6, ENST00000412633.3, ENST00000422165.6, ENST00000438742.6, ENST00000455702.7, ENST00000509001.5, ENST00000656932.1, ENST00000658476.1, ENST00000660295.1, ENST00000714312.1, ENST00000714313.1, ENST00000714314.1, ENST00000714316.2, ENST00000714317.1 )
TNNT2 p.Arg169Ter (p.R169*) ( ENST00000367318.10, ENST00000367320.6, ENST00000367322.6, ENST00000412633.3, ENST00000422165.6, ENST00000438742.6, ENST00000455702.7, ENST00000509001.5, ENST00000656932.1, ENST00000658476.1, ENST00000660295.1, ENST00000714312.1, ENST00000714313.1, ENST00000714314.1, ENST00000714316.2, ENST00000714317.1 )
TNNT2 p.Arg151Trp (p.R151W) ( ENST00000367318.10, ENST00000367320.6, ENST00000367322.6, ENST00000412633.3, ENST00000422165.6, ENST00000438742.6, ENST00000455702.7, ENST00000509001.5, ENST00000656932.1, ENST00000658476.1, ENST00000660295.1, ENST00000714312.1, ENST00000714313.1, ENST00000714314.1, ENST00000714316.2, ENST00000714317.1 )
TNNT2 p.Arg151= (p.R151=) ( ENST00000367318.10, ENST00000367320.6, ENST00000367322.6, ENST00000412633.3, ENST00000422165.6, ENST00000438742.6, ENST00000455702.7, ENST00000509001.5, ENST00000656932.1, ENST00000658476.1, ENST00000660295.1, ENST00000714312.1, ENST00000714313.1, ENST00000714314.1, ENST00000714316.2, ENST00000714317.1 )
TNNT2 p.Arg144Trp (p.R144W) ( ENST00000367318.10, ENST00000367320.6, ENST00000367322.6, ENST00000412633.3, ENST00000422165.6, ENST00000438742.6, ENST00000455702.7, ENST00000509001.5, ENST00000656932.1, ENST00000658476.1, ENST00000660295.1, ENST00000714312.1, ENST00000714313.1, ENST00000714314.1, ENST00000714316.2, ENST00000714317.1 )
TNNT2 p.Arg144Gly (p.R144G) ( ENST00000367318.10, ENST00000367320.6, ENST00000367322.6, ENST00000412633.3, ENST00000422165.6, ENST00000438742.6, ENST00000455702.7, ENST00000509001.5, ENST00000656932.1, ENST00000658476.1, ENST00000660295.1, ENST00000714312.1, ENST00000714313.1, ENST00000714314.1, ENST00000714316.2, ENST00000714317.1 )
TNNT2 p.Arg144= (p.R144=) ( ENST00000367318.10, ENST00000367320.6, ENST00000367322.6, ENST00000412633.3, ENST00000422165.6, ENST00000438742.6, ENST00000455702.7, ENST00000509001.5, ENST00000656932.1, ENST00000658476.1, ENST00000660295.1, ENST00000714312.1, ENST00000714313.1, ENST00000714314.1, ENST00000714316.2, ENST00000714317.1 )
TNNT2 p.Arg141Pro (p.R141P) ( ENST00000367318.10, ENST00000367320.6, ENST00000367322.6, ENST00000412633.3, ENST00000422165.6, ENST00000438742.6, ENST00000455702.7, ENST00000509001.5, ENST00000656932.1, ENST00000658476.1, ENST00000660295.1, ENST00000714312.1, ENST00000714313.1, ENST00000714314.1, ENST00000714316.2, ENST00000714317.1 )
TNNT2 p.Arg141Gln (p.R141Q) ( ENST00000367318.10, ENST00000367320.6, ENST00000367322.6, ENST00000412633.3, ENST00000422165.6, ENST00000438742.6, ENST00000455702.7, ENST00000509001.5, ENST00000656932.1, ENST00000658476.1, ENST00000660295.1, ENST00000714312.1, ENST00000714313.1, ENST00000714314.1, ENST00000714316.2, ENST00000714317.1 )
TNNT2 p.Arg141Trp (p.R141W) ( ENST00000367318.10, ENST00000367320.6, ENST00000367322.6, ENST00000412633.3, ENST00000422165.6, ENST00000438742.6, ENST00000455702.7, ENST00000509001.5, ENST00000656932.1, ENST00000658476.1, ENST00000660295.1, ENST00000714312.1, ENST00000714313.1, ENST00000714314.1, ENST00000714316.2, ENST00000714317.1 )
TNNT2 p.Glu128Lys (p.E128K) ( ENST00000367318.10, ENST00000367320.6, ENST00000367322.6, ENST00000412633.3, ENST00000422165.6, ENST00000438742.6, ENST00000455702.7, ENST00000509001.5, ENST00000656932.1, ENST00000658476.1, ENST00000660295.1, ENST00000714312.1, ENST00000714313.1, ENST00000714314.1, ENST00000714316.2, ENST00000714317.1 )
TNNT2 p.Asp98Glu (p.D98E) ( ENST00000367318.10, ENST00000367320.6, ENST00000367322.6, ENST00000412633.3, ENST00000422165.6, ENST00000438742.6, ENST00000455702.7, ENST00000509001.5, ENST00000656932.1, ENST00000658476.1, ENST00000660295.1, ENST00000714312.1, ENST00000714313.1, ENST00000714314.1, ENST00000714316.2, ENST00000714317.1 )
TNNT2 p.Ile89Asn (p.I89N) ( ENST00000367318.10, ENST00000367320.6, ENST00000367322.6, ENST00000412633.3, ENST00000422165.6, ENST00000438742.6, ENST00000455702.7, ENST00000509001.5, ENST00000656932.1, ENST00000658476.1, ENST00000660295.1, ENST00000714312.1, ENST00000714313.1, ENST00000714314.1, ENST00000714316.2, ENST00000714317.1 )
TNNT2 p.Asn83Ser (p.N83S) ( ENST00000367318.10, ENST00000367320.6, ENST00000367322.6, ENST00000412633.3, ENST00000422165.6, ENST00000438742.6, ENST00000455702.7, ENST00000509001.5, ENST00000656932.1, ENST00000658476.1, ENST00000660295.1, ENST00000714312.1, ENST00000714313.1, ENST00000714314.1, ENST00000714316.2, ENST00000714317.1 ) - Associated Disease
- CARDIOMYOPATHY, DILATED, 1D (disorder)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.44
- Year of publication
- NA
Drugs