Canonical Allele Identifier: CA5815095

Gene: TNNI2

Linked Data

• ClinVar Variation Id: 303935
• ClinVar RCV Id: RCV000266804 ; RCV000317217 ; RCV000994540 ; RCV002522192
• dbSNP Id: rs200110633
• ExAC: 11:1861761 G / A
• gnomAD v2: 11-1861761-G-A
• gnomAD v3: 11-1840531-G-A
• gnomAD v4: 11-1840531-G-A
• MyVariant Identifiers: chr11:g.1861761G>A (hg19) ; chr11:g.1840531G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1840531G>A , CM000673.2:g.1840531G>A	GRCh38
NC_000011.9:g.1861761G>A , CM000673.1:g.1861761G>A	GRCh37
NC_000011.8:g.1818337G>A	NCBI36
NG_011621.1:g.6529G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381911.6:c.61G>A MANE Select	ENSP00000371336.1:p.Val21Met
ENST00000252898.11:c.61G>A	ENSP00000252898.7:p.Val21Met
ENST00000381905.3:c.61G>A	ENSP00000371330.3:p.Val21Met
ENST00000381906.5:c.61G>A	ENSP00000371331.1:p.Val21Met
ENST00000381911.5:c.61G>A	ENSP00000371336.1:p.Val21Met
ENST00000468473.1:n.231G>A
ENST00000617947.4:c.61G>A	ENSP00000481242.1:p.Val21Met
NM_001145829.1:c.61G>A	NP_001139301.1:p.Val21Met
NM_001145841.1:c.61G>A	NP_001139313.1:p.Val21Met
NM_003282.3:c.61G>A	NP_003273.1:p.Val21Met
NM_003282.4:c.61G>A MANE Select	NP_003273.1:p.Val21Met
NM_001145829.2:c.61G>A	NP_001139301.1:p.Val21Met
NM_001145841.2:c.61G>A	NP_001139313.1:p.Val21Met