Canonical Allele Identifier: CA5815313

Gene: TNNI2

Linked Data

• ClinVar Variation Id: 1306536
• ClinVar RCV Id: RCV001770716 ; RCV002544010
• dbSNP Id: rs371341053
• ExAC: 11:1862704 G / A
• gnomAD v2: 11-1862704-G-A
• gnomAD v3: 11-1841474-G-A
• gnomAD v4: 11-1841474-G-A
• MyVariant Identifiers: chr11:g.1862704G>A (hg19) ; chr11:g.1841474G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1841474G>A , CM000673.2:g.1841474G>A	GRCh38
NC_000011.9:g.1862704G>A , CM000673.1:g.1862704G>A	GRCh37
NC_000011.8:g.1819280G>A	NCBI36
NG_011621.1:g.7472G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000381911.6:c.472G>A MANE Select	ENSP00000371336.1:p.Val158Met
ENST00000252898.11:c.472G>A	ENSP00000252898.7:p.Val158Met
ENST00000381905.3:c.472G>A	ENSP00000371330.3:p.Val158Met
ENST00000381906.5:c.472G>A	ENSP00000371331.1:p.Val158Met
ENST00000381911.5:c.472G>A	ENSP00000371336.1:p.Val158Met
ENST00000617947.4:c.472G>A	ENSP00000481242.1:p.Val158Met
NM_001145829.1:c.472G>A	NP_001139301.1:p.Val158Met
NM_001145841.1:c.472G>A	NP_001139313.1:p.Val158Met
NM_003282.3:c.472G>A	NP_003273.1:p.Val158Met
NM_003282.4:c.472G>A MANE Select	NP_003273.1:p.Val158Met
NM_001145829.2:c.472G>A	NP_001139301.1:p.Val158Met
NM_001145841.2:c.472G>A	NP_001139313.1:p.Val158Met