Canonical Allele Identifier: CA343237005
Gene: ATP1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160127569G>A , CM000663.2:g.160127569G>A GRCh38
NC_000001.10:g.160097359G>A , CM000663.1:g.160097359G>A GRCh37
NC_000001.9:g.158363983G>A NCBI36
NG_008014.1:g.16812G>A , LRG_6:g.16812G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361216.8:c.766G>A MANE Select ENSP00000354490.3:p.Val256Met
ENST00000361216.7:c.766G>A ENSP00000354490.3:p.Val256Met
ENST00000392233.7:c.766G>A ENSP00000376066.3:p.Val256Met
ENST00000472488.5:n.869G>A
NM_000702.3:c.766G>A NP_000693.1:p.Val256Met
NM_000702.4:c.766G>A MANE Select NP_000693.1:p.Val256Met