Canonical Allele Identifier: CA421599414
Gene: ATP1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.160097367C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160127577C>T , CM000663.2:g.160127577C>T GRCh38
NC_000001.10:g.160097367C>T , CM000663.1:g.160097367C>T GRCh37
NC_000001.9:g.158363991C>T NCBI36
NG_008014.1:g.16820C>T , LRG_6:g.16820C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.774C>T MANE Select ENSP00000354490.3:p.Ala258=
ENST00000361216.7:c.774C>T ENSP00000354490.3:p.Ala258=
ENST00000392233.7:c.774C>T ENSP00000376066.3:p.Ala258=
ENST00000472488.5:n.877C>T
NM_000702.3:c.774C>T NP_000693.1:p.Ala258=
NM_000702.4:c.774C>T MANE Select NP_000693.1:p.Ala258=