Canonical Allele Identifier: CA1194252

Gene: ATP1A2

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)

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