Canonical Allele Identifier: CA343256248
Gene: ATP1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160139925G>A , CM000663.2:g.160139925G>A GRCh38
NC_000001.10:g.160109715G>A , CM000663.1:g.160109715G>A GRCh37
NC_000001.9:g.158376339G>A NCBI36
NG_008014.1:g.29168G>A , LRG_6:g.29168G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361216.8:c.2975G>A MANE Select ENSP00000354490.3:p.Ser992Asn
ENST00000361216.7:c.2975G>A ENSP00000354490.3:p.Ser992Asn
ENST00000392233.7:c.2943-1G>A ENSP00000376066.3:n.2943-1G>A
ENST00000447527.1:c.2056G>A
ENST00000463989.1:n.311G>A
NM_000702.3:c.2975G>A NP_000693.1:p.Ser992Asn
NM_000702.4:c.2975G>A MANE Select NP_000693.1:p.Ser992Asn