Canonical Allele Identifier: CA313274
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 204885
dbSNP Id: rs121918620

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160128761C>G , CM000663.2:g.160128761C>G GRCh38
NC_000001.10:g.160098551C>G , CM000663.1:g.160098551C>G GRCh37
NC_000001.9:g.158365175C>G NCBI36
NG_008014.1:g.18004C>G , LRG_6:g.18004C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000361216.8:c.1127C>G MANE Select ENSP00000354490.3:p.Thr376Arg
ENST00000361216.7:c.1127C>G ENSP00000354490.3:p.Thr376Arg
ENST00000392233.7:c.1127C>G ENSP00000376066.3:p.Thr376Arg
ENST00000447527.1:c.259C>G
ENST00000472488.5:n.1230C>G
NM_000702.3:c.1127C>G NP_000693.1:p.Thr376Arg
NM_000702.4:c.1127C>G MANE Select NP_000693.1:p.Thr376Arg