Canonical Allele Identifier: CA343237027
Gene: ATP1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160127572A>C , CM000663.2:g.160127572A>C GRCh38
NC_000001.10:g.160097362A>C , CM000663.1:g.160097362A>C GRCh37
NC_000001.9:g.158363986A>C NCBI36
NG_008014.1:g.16815A>C , LRG_6:g.16815A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361216.8:c.769A>C MANE Select ENSP00000354490.3:p.Ile257Leu
ENST00000361216.7:c.769A>C ENSP00000354490.3:p.Ile257Leu
ENST00000392233.7:c.769A>C ENSP00000376066.3:p.Ile257Leu
ENST00000472488.5:n.872A>C
NM_000702.3:c.769A>C NP_000693.1:p.Ile257Leu
NM_000702.4:c.769A>C MANE Select NP_000693.1:p.Ile257Leu