Canonical Allele Identifier: CA1194252
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 453128
ClinVar RCV Id: RCV000519514 RCV000717274 RCV001809475 RCV002314919 RCV003409755
dbSNP Id: rs764917849
ExAC: 1:160095031 A / G
gnomAD v2: 1-160095031-A-G
gnomAD v3: 1-160125241-A-G
gnomAD v4: 1-160125241-A-G
MyVariant Identifiers: chr1:g.160095031A>G (hg19) chr1:g.160125241A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160125241A>G , CM000663.2:g.160125241A>G GRCh38
NC_000001.10:g.160095031A>G , CM000663.1:g.160095031A>G GRCh37
NC_000001.9:g.158361655A>G NCBI36
NG_008014.1:g.14484A>G , LRG_6:g.14484A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.736A>G MANE Select ENSP00000354490.3:p.Asn246Asp
ENST00000361216.7:c.736A>G ENSP00000354490.3:p.Asn246Asp
ENST00000392233.7:c.736A>G ENSP00000376066.3:p.Asn246Asp
ENST00000468587.1:n.340A>G
ENST00000472488.5:n.839A>G
NM_000702.3:c.736A>G NP_000693.1:p.Asn246Asp
NM_000702.4:c.736A>G MANE Select NP_000693.1:p.Asn246Asp
Search 100 bp 5'
Search 100 bp 3'