Canonical Allele Identifier: CA343248806
Gene: ATP1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160135294A>T , CM000663.2:g.160135294A>T GRCh38
NC_000001.10:g.160105084A>T , CM000663.1:g.160105084A>T GRCh37
NC_000001.9:g.158371708A>T NCBI36
NG_008014.1:g.24537A>T , LRG_6:g.24537A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000361216.8:c.2114A>T MANE Select ENSP00000354490.3:p.Gln705Leu
ENST00000361216.7:c.2114A>T ENSP00000354490.3:p.Gln705Leu
ENST00000392233.7:c.2114A>T ENSP00000376066.3:p.Gln705Leu
ENST00000447527.1:c.1246A>T
ENST00000472488.5:n.2217A>T
NM_000702.3:c.2114A>T NP_000693.1:p.Gln705Leu
NM_000702.4:c.2114A>T MANE Select NP_000693.1:p.Gln705Leu