Canonical Allele Identifier: CA472106779
Gene: TNNI2 HGNC NCBI

Linked Data

dbSNP Id: rs139820259
gnomAD v2: 11-1861850-G-C
gnomAD v4: 11-1840620-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1840620G>C , CM000673.2:g.1840620G>C GRCh38
NC_000011.9:g.1861850G>C , CM000673.1:g.1861850G>C GRCh37
NC_000011.8:g.1818426G>C NCBI36
NG_011621.1:g.6618G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381911.6:c.150G>C MANE Select ENSP00000371336.1:p.Pro50=
ENST00000252898.11:c.150G>C ENSP00000252898.7:p.Pro50=
ENST00000381905.3:c.150G>C ENSP00000371330.3:p.Pro50=
ENST00000381906.5:c.150G>C ENSP00000371331.1:p.Pro50=
ENST00000381911.5:c.150G>C ENSP00000371336.1:p.Pro50=
ENST00000468473.1:n.320G>C
ENST00000617947.4:c.150G>C ENSP00000481242.1:p.Pro50=
NM_001145829.1:c.150G>C NP_001139301.1:p.Pro50=
NM_001145841.1:c.150G>C NP_001139313.1:p.Pro50=
NM_003282.3:c.150G>C NP_003273.1:p.Pro50=
NM_003282.4:c.150G>C MANE Select NP_003273.1:p.Pro50=
NM_001145829.2:c.150G>C NP_001139301.1:p.Pro50=
NM_001145841.2:c.150G>C NP_001139313.1:p.Pro50=