Canonical Allele Identifier: CA1194299
Gene: ATP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs750552372
ExAC: 1:160097421 G / A
gnomAD v2: 1-160097421-G-A
gnomAD v4: 1-160127631-G-A
MyVariant Identifiers: chr1:g.160097421G>A (hg19) chr1:g.160127631G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160127631G>A , CM000663.2:g.160127631G>A GRCh38
NC_000001.10:g.160097421G>A , CM000663.1:g.160097421G>A GRCh37
NC_000001.9:g.158364045G>A NCBI36
NG_008014.1:g.16874G>A , LRG_6:g.16874G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.828G>A MANE Select ENSP00000354490.3:p.Glu276=
ENST00000361216.7:c.828G>A ENSP00000354490.3:p.Glu276=
ENST00000392233.7:c.828G>A ENSP00000376066.3:p.Glu276=
ENST00000472488.5:n.931G>A
NM_000702.3:c.828G>A NP_000693.1:p.Glu276=
NM_000702.4:c.828G>A MANE Select NP_000693.1:p.Glu276=
Search 100 bp 5'
Search 100 bp 3'