Canonical Allele Identifier: CA343243779
Gene: ATP1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160130283G>C , CM000663.2:g.160130283G>C GRCh38
NC_000001.10:g.160100073G>C , CM000663.1:g.160100073G>C GRCh37
NC_000001.9:g.158366697G>C NCBI36
NG_008014.1:g.19526G>C , LRG_6:g.19526G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361216.8:c.1643G>C MANE Select ENSP00000354490.3:p.Arg548Pro
ENST00000361216.7:c.1643G>C ENSP00000354490.3:p.Arg548Pro
ENST00000392233.7:c.1643G>C ENSP00000376066.3:p.Arg548Pro
ENST00000447527.1:c.775G>C
ENST00000472488.5:n.1746G>C
NM_000702.3:c.1643G>C NP_000693.1:p.Arg548Pro
NM_000702.4:c.1643G>C MANE Select NP_000693.1:p.Arg548Pro