Canonical Allele Identifier: CA379105323
Gene: TNNI2 HGNC NCBI

Linked Data

dbSNP Id: rs778403065
gnomAD v3: 11-1840619-C-G
gnomAD v4: 11-1840619-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1840619C>G , CM000673.2:g.1840619C>G GRCh38
NC_000011.9:g.1861849C>G , CM000673.1:g.1861849C>G GRCh37
NC_000011.8:g.1818425C>G NCBI36
NG_011621.1:g.6617C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381911.6:c.149C>G MANE Select ENSP00000371336.1:p.Pro50Arg
ENST00000252898.11:c.149C>G ENSP00000252898.7:p.Pro50Arg
ENST00000381905.3:c.149C>G ENSP00000371330.3:p.Pro50Arg
ENST00000381906.5:c.149C>G ENSP00000371331.1:p.Pro50Arg
ENST00000381911.5:c.149C>G ENSP00000371336.1:p.Pro50Arg
ENST00000468473.1:n.319C>G
ENST00000617947.4:c.149C>G ENSP00000481242.1:p.Pro50Arg
NM_001145829.1:c.149C>G NP_001139301.1:p.Pro50Arg
NM_001145841.1:c.149C>G NP_001139313.1:p.Pro50Arg
NM_003282.3:c.149C>G NP_003273.1:p.Pro50Arg
NM_003282.4:c.149C>G MANE Select NP_003273.1:p.Pro50Arg
NM_001145829.2:c.149C>G NP_001139301.1:p.Pro50Arg
NM_001145841.2:c.149C>G NP_001139313.1:p.Pro50Arg