Canonical Allele Identifier: CA343244192
Gene: ATP1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160130481G>T , CM000663.2:g.160130481G>T GRCh38
NC_000001.10:g.160100271G>T , CM000663.1:g.160100271G>T GRCh37
NC_000001.9:g.158366895G>T NCBI36
NG_008014.1:g.19724G>T , LRG_6:g.19724G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.1711G>T MANE Select ENSP00000354490.3:p.Asp571Tyr
ENST00000361216.7:c.1711G>T ENSP00000354490.3:p.Asp571Tyr
ENST00000392233.7:c.1711G>T ENSP00000376066.3:p.Asp571Tyr
ENST00000447527.1:c.843G>T
ENST00000472488.5:n.1814G>T
NM_000702.3:c.1711G>T NP_000693.1:p.Asp571Tyr
NM_000702.4:c.1711G>T MANE Select NP_000693.1:p.Asp571Tyr