Canonical Allele Identifier: CA1194241

Gene: ATP1A2

Linked Data

• ClinVar Variation Id: 516526
• ClinVar RCV Id: RCV000600663 ; RCV000720064 ; RCV002317371 ; RCV002260031 ; RCV002260033 ; RCV002260030 ; RCV002260032
• dbSNP Id: rs564452950
• ExAC: 1:160094955 G / A
• gnomAD v2: 1-160094955-G-A
• gnomAD v3: 1-160125165-G-A
• gnomAD v4: 1-160125165-G-A
• MyVariant Identifiers: chr1:g.160094955G>A (hg19) ; chr1:g.160125165G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160125165G>A , CM000663.2:g.160125165G>A	GRCh38
NC_000001.10:g.160094955G>A , CM000663.1:g.160094955G>A	GRCh37
NC_000001.9:g.158361579G>A	NCBI36
NG_008014.1:g.14408G>A , LRG_6:g.14408G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361216.8:c.660G>A MANE Select	ENSP00000354490.3:p.Ser220=
ENST00000361216.7:c.660G>A	ENSP00000354490.3:p.Ser220=
ENST00000392233.7:c.660G>A	ENSP00000376066.3:p.Ser220=
ENST00000468587.1:n.264G>A
ENST00000472488.5:n.763G>A
NM_000702.3:c.660G>A	NP_000693.1:p.Ser220=
NM_000702.4:c.660G>A MANE Select	NP_000693.1:p.Ser220=