Canonical Allele Identifier: CA379105310

Gene: TNNI2

Linked Data

• dbSNP Id: rs537179683
• gnomAD v4: 11-1840614-C-G
• MyVariant Identifiers: chr11:g.1861844C>G (hg19) ; chr11:g.1840614C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1840614C>G , CM000673.2:g.1840614C>G	GRCh38
NC_000011.9:g.1861844C>G , CM000673.1:g.1861844C>G	GRCh37
NC_000011.8:g.1818420C>G	NCBI36
NG_011621.1:g.6612C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381911.6:c.144C>G MANE Select	ENSP00000371336.1:p.His48Gln
ENST00000252898.11:c.144C>G	ENSP00000252898.7:p.His48Gln
ENST00000381905.3:c.144C>G	ENSP00000371330.3:p.His48Gln
ENST00000381906.5:c.144C>G	ENSP00000371331.1:p.His48Gln
ENST00000381911.5:c.144C>G	ENSP00000371336.1:p.His48Gln
ENST00000468473.1:n.314C>G
ENST00000617947.4:c.144C>G	ENSP00000481242.1:p.His48Gln
NM_001145829.1:c.144C>G	NP_001139301.1:p.His48Gln
NM_001145841.1:c.144C>G	NP_001139313.1:p.His48Gln
NM_003282.3:c.144C>G	NP_003273.1:p.His48Gln
NM_003282.4:c.144C>G MANE Select	NP_003273.1:p.His48Gln
NM_001145829.2:c.144C>G	NP_001139301.1:p.His48Gln
NM_001145841.2:c.144C>G	NP_001139313.1:p.His48Gln