Canonical Allele Identifier: CA5815126

Gene: TNNI2

Linked Data

• ClinVar Variation Id: 2326668
• ClinVar RCV Id: RCV002924169
• dbSNP Id: rs780362803
• ExAC: 11:1861860 A / G
• gnomAD v2: 11-1861860-A-G
• gnomAD v3: 11-1840630-A-G
• gnomAD v4: 11-1840630-A-G
• MyVariant Identifiers: chr11:g.1861860A>G (hg19) ; chr11:g.1840630A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1840630A>G , CM000673.2:g.1840630A>G	GRCh38
NC_000011.9:g.1861860A>G , CM000673.1:g.1861860A>G	GRCh37
NC_000011.8:g.1818436A>G	NCBI36
NG_011621.1:g.6628A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381911.6:c.160A>G MANE Select	ENSP00000371336.1:p.Ile54Val
ENST00000252898.11:c.160A>G	ENSP00000252898.7:p.Ile54Val
ENST00000381905.3:c.160A>G	ENSP00000371330.3:p.Ile54Val
ENST00000381906.5:c.160A>G	ENSP00000371331.1:p.Ile54Val
ENST00000381911.5:c.160A>G	ENSP00000371336.1:p.Ile54Val
ENST00000468473.1:n.330A>G
ENST00000617947.4:c.160A>G	ENSP00000481242.1:p.Ile54Val
NM_001145829.1:c.160A>G	NP_001139301.1:p.Ile54Val
NM_001145841.1:c.160A>G	NP_001139313.1:p.Ile54Val
NM_003282.3:c.160A>G	NP_003273.1:p.Ile54Val
NM_003282.4:c.160A>G MANE Select	NP_003273.1:p.Ile54Val
NM_001145829.2:c.160A>G	NP_001139301.1:p.Ile54Val
NM_001145841.2:c.160A>G	NP_001139313.1:p.Ile54Val