Canonical Allele Identifier: CA1194583

Gene: ATP1A2

Linked Data

• dbSNP Id: rs750867266
• ExAC: 1:160100413 A / C
• gnomAD v2: 1-160100413-A-C
• gnomAD v3: 1-160130623-A-C
• gnomAD v4: 1-160130623-A-C
• MyVariant Identifiers: chr1:g.160100413A>C (hg19) ; chr1:g.160130623A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160130623A>C , CM000663.2:g.160130623A>C	GRCh38
NC_000001.10:g.160100413A>C , CM000663.1:g.160100413A>C	GRCh37
NC_000001.9:g.158367037A>C	NCBI36
NG_008014.1:g.19866A>C , LRG_6:g.19866A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361216.8:c.1827+26A>C MANE Select	ENSP00000354490.3:n.1827+26A>C
ENST00000361216.7:c.1827+26A>C	ENSP00000354490.3:n.1827+26A>C
ENST00000392233.7:c.1827+26A>C	ENSP00000376066.3:n.1827+26A>C
ENST00000447527.1:c.959+26A>C
ENST00000472488.5:n.1930+26A>C
NM_000702.3:c.1827+26A>C	NP_000693.1:n.1827+26A>C
NM_000702.4:c.1827+26A>C MANE Select	NP_000693.1:n.1827+26A>C