TNNI2 troponin I2, fast skeletal type

Information
Symbol
TNNI2
Type
protein-coding
Description
troponin I2, fast skeletal type
Entrez Gene ID
7136
Genome
hg19
Position
chr11:1,860,211-1,862,908
Genome
hg38
Position
chr11:1,838,981-1,841,678
MIM
191043 OMIM
HGNC
HGNC:11946 HGNC
Ensembl
ENSG00000130598 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 1 8
Likely pathogenic 2 16
Benign 2 22
Likely benign 0 52
Conflicting classifications of pathogenicity 0 16
not provided 0 2
Uncertain significance 0 72
Ranking
ClinVar
0
0
30
132
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
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 AMCD2B
SYNONYM DA2B
SYNONYM DA2B1
SYNONYM FSSV
SYNONYM fsTnI
MIM 191043 OMIM
HGNC HGNC:11946 HGNC
Ensembl ENSG00000130598 Ensembl
AllianceGenome HGNC:11946
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000381911.6 hg38 chr11 1,838,981 1,841,678 2,698
ENST00000381906.5 hg38 chr11 1,839,481 1,841,678 2,198
ENST00000381905.3 hg38 chr11 1,840,194 1,841,678 1,485
ENST00000252898.11 hg38 chr11 1,839,697 1,841,680 1,984
ENST00000381911.6 hg19 chr11 1,860,211 1,862,908 2,698
ENST00000381906.5 hg19 chr11 1,860,711 1,862,908 2,198
ENST00000252898.11 hg19 chr11 1,860,927 1,862,910 1,984
ENST00000381905.3 hg19 chr11 1,861,424 1,862,908 1,485
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