Canonical Allele Identifier: CA288685
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 128478
dbSNP Id: rs61734527

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160121203G>A , CM000663.2:g.160121203G>A GRCh38
NC_000001.10:g.160090993G>A , CM000663.1:g.160090993G>A GRCh37
NC_000001.9:g.158357617G>A NCBI36
NG_008014.1:g.10446G>A , LRG_6:g.10446G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361216.8:c.129G>A MANE Select ENSP00000354490.3:p.Lys43=
ENST00000361216.7:c.129G>A ENSP00000354490.3:p.Lys43=
ENST00000392233.7:c.129G>A ENSP00000376066.3:p.Lys43=
ENST00000472488.5:n.232G>A
ENST00000478587.1:n.409G>A
NM_000702.3:c.129G>A NP_000693.1:p.Lys43=
NM_000702.4:c.129G>A MANE Select NP_000693.1:p.Lys43=