Canonical Allele Identifier: CA343237352
Gene: ATP1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160127612C>A , CM000663.2:g.160127612C>A GRCh38
NC_000001.10:g.160097402C>A , CM000663.1:g.160097402C>A GRCh37
NC_000001.9:g.158364026C>A NCBI36
NG_008014.1:g.16855C>A , LRG_6:g.16855C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.809C>A MANE Select ENSP00000354490.3:p.Thr270Asn
ENST00000361216.7:c.809C>A ENSP00000354490.3:p.Thr270Asn
ENST00000392233.7:c.809C>A ENSP00000376066.3:p.Thr270Asn
ENST00000472488.5:n.912C>A
NM_000702.3:c.809C>A NP_000693.1:p.Thr270Asn
NM_000702.4:c.809C>A MANE Select NP_000693.1:p.Thr270Asn