Canonical Allele Identifier: CA127421
Gene: ATP2A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17794
ClinVar RCV Id: RCV000019372
dbSNP Id: rs121912734

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110339638T>C , CM000674.2:g.110339638T>C GRCh38
NC_000012.11:g.110777443T>C , CM000674.1:g.110777443T>C GRCh37
NC_000012.10:g.109261826T>C NCBI36
NG_007097.2:g.63012T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000539276.7:c.1678T>C MANE Select ENSP00000440045.2:p.Cys560Arg
ENST00000308664.10:c.1678T>C ENSP00000311186.6:p.Cys560Arg
ENST00000377685.9:c.*1518T>C ENSP00000366913.4:n.*1518T>C
ENST00000539276.6:c.1678T>C ENSP00000440045.2:p.Cys560Arg
ENST00000548169.2:c.1349T>C
NM_001681.3:c.1678T>C NP_001672.1:p.Cys560Arg
NM_170665.3:c.1678T>C NP_733765.1:p.Cys560Arg
XM_005253888.1:c.1678T>C XP_005253945.1:p.Cys560Arg
XM_011538402.1:c.1678T>C XP_011536704.1:p.Cys560Arg
XM_011538403.1:c.1678T>C XP_011536705.1:p.Cys560Arg
XR_243009.1:n.1684T>C
XM_005253888.3:c.1678T>C XP_005253945.1:p.Cys560Arg
XM_011538402.3:c.1678T>C XP_011536704.1:p.Cys560Arg
XR_002957329.1:n.1684T>C
XR_243009.3:n.1684T>C
NM_170665.4:c.1678T>C MANE Select NP_733765.1:p.Cys560Arg
NM_001681.4:c.1678T>C NP_001672.1:p.Cys560Arg