TCTN2 tectonic family member 2

Information
Symbol
TCTN2
Type
protein-coding
Description
tectonic family member 2
Entrez Gene ID
79867
Genome
hg19
Position
chr12:124,155,660-124,192,946
Genome
hg38
Position
chr12:123,671,113-123,708,399
MIM
613846 OMIM
HGNC
HGNC:25774 HGNC
Ensembl
ENSG00000168778 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 66
Likely pathogenic 0 49
Benign 0 146
Likely benign 0 450
Conflicting classifications of pathogenicity 0 48
Uncertain significance 0 524
Ranking
ClinVar
0
0
194
1,001
2
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM C12orf38
SYNONYM JBTS24
SYNONYM MKS8
SYNONYM TECT2
MIM 613846 OMIM
HGNC HGNC:25774 HGNC
Ensembl ENSG00000168778 Ensembl
AllianceGenome HGNC:25774
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000679504.1 hg38 chr12 123,671,113 123,708,340 37,228
ENST00000680574.1 hg38 chr12 123,671,110 123,707,997 36,888
ENST00000426174.6 hg38 chr12 123,671,113 123,708,007 36,895
ENST00000303372.7 hg38 chr12 123,671,113 123,708,399 37,287
ENST00000680574.1 hg19 chr12 124,155,657 124,192,544 36,888
ENST00000426174.6 hg19 chr12 124,155,660 124,192,554 36,895
ENST00000679504.1 hg19 chr12 124,155,660 124,192,887 37,228
ENST00000303372.7 hg19 chr12 124,155,660 124,192,946 37,287
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