Canonical Allele Identifier: CA343256519
Gene: ATP1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160139952T>C , CM000663.2:g.160139952T>C GRCh38
NC_000001.10:g.160109742T>C , CM000663.1:g.160109742T>C GRCh37
NC_000001.9:g.158376366T>C NCBI36
NG_008014.1:g.29195T>C , LRG_6:g.29195T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.3002T>C MANE Select ENSP00000354490.3:p.Val1001Ala
ENST00000361216.7:c.3002T>C ENSP00000354490.3:p.Val1001Ala
ENST00000392233.7:c.2969T>C ENSP00000376066.3:p.Val990Ala
ENST00000447527.1:c.2083T>C
ENST00000463989.1:n.338T>C
NM_000702.3:c.3002T>C NP_000693.1:p.Val1001Ala
NM_000702.4:c.3002T>C MANE Select NP_000693.1:p.Val1001Ala