Canonical Allele Identifier: CA5815119

Gene: TNNI2

Linked Data

• dbSNP Id: rs79448870
• ExAC: 11:1861838 G / A
• gnomAD v2: 11-1861838-G-A
• gnomAD v3: 11-1840608-G-A
• gnomAD v4: 11-1840608-G-A
• MyVariant Identifiers: chr11:g.1861838G>A (hg19) ; chr11:g.1840608G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1840608G>A , CM000673.2:g.1840608G>A	GRCh38
NC_000011.9:g.1861838G>A , CM000673.1:g.1861838G>A	GRCh37
NC_000011.8:g.1818414G>A	NCBI36
NG_011621.1:g.6606G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381911.6:c.138G>A MANE Select	ENSP00000371336.1:p.Ala46=
ENST00000252898.11:c.138G>A	ENSP00000252898.7:p.Ala46=
ENST00000381905.3:c.138G>A	ENSP00000371330.3:p.Ala46=
ENST00000381906.5:c.138G>A	ENSP00000371331.1:p.Ala46=
ENST00000381911.5:c.138G>A	ENSP00000371336.1:p.Ala46=
ENST00000468473.1:n.308G>A
ENST00000617947.4:c.138G>A	ENSP00000481242.1:p.Ala46=
NM_001145829.1:c.138G>A	NP_001139301.1:p.Ala46=
NM_001145841.1:c.138G>A	NP_001139313.1:p.Ala46=
NM_003282.3:c.138G>A	NP_003273.1:p.Ala46=
NM_003282.4:c.138G>A MANE Select	NP_003273.1:p.Ala46=
NM_001145829.2:c.138G>A	NP_001139301.1:p.Ala46=
NM_001145841.2:c.138G>A	NP_001139313.1:p.Ala46=