Canonical Allele Identifier: CA472106273
Gene: TNNI2 HGNC NCBI

Linked Data

dbSNP Id: rs1315543039
gnomAD v2: 11-1861823-G-A
gnomAD v3: 11-1840593-G-A
gnomAD v4: 11-1840593-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1840593G>A , CM000673.2:g.1840593G>A GRCh38
NC_000011.9:g.1861823G>A , CM000673.1:g.1861823G>A GRCh37
NC_000011.8:g.1818399G>A NCBI36
NG_011621.1:g.6591G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381911.6:c.123G>A MANE Select ENSP00000371336.1:p.Lys41=
ENST00000252898.11:c.123G>A ENSP00000252898.7:p.Lys41=
ENST00000381905.3:c.123G>A ENSP00000371330.3:p.Lys41=
ENST00000381906.5:c.123G>A ENSP00000371331.1:p.Lys41=
ENST00000381911.5:c.123G>A ENSP00000371336.1:p.Lys41=
ENST00000468473.1:n.293G>A
ENST00000617947.4:c.123G>A ENSP00000481242.1:p.Lys41=
NM_001145829.1:c.123G>A NP_001139301.1:p.Lys41=
NM_001145841.1:c.123G>A NP_001139313.1:p.Lys41=
NM_003282.3:c.123G>A NP_003273.1:p.Lys41=
NM_003282.4:c.123G>A MANE Select NP_003273.1:p.Lys41=
NM_001145829.2:c.123G>A NP_001139301.1:p.Lys41=
NM_001145841.2:c.123G>A NP_001139313.1:p.Lys41=