Canonical Allele Identifier: CA127419
Gene: ATP2A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17793
ClinVar RCV Id: RCV000019371
dbSNP Id: rs121912733

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110327725G>T , CM000674.2:g.110327725G>T GRCh38
NC_000012.11:g.110765530G>T , CM000674.1:g.110765530G>T GRCh37
NC_000012.10:g.109249913G>T NCBI36
NG_007097.2:g.51099G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000539276.7:c.803G>T MANE Select ENSP00000440045.2:p.Cys268Phe
ENST00000308664.10:c.803G>T ENSP00000311186.6:p.Cys268Phe
ENST00000377685.9:c.*643G>T ENSP00000366913.4:n.*643G>T
ENST00000539276.6:c.803G>T ENSP00000440045.2:p.Cys268Phe
ENST00000547050.1:n.848G>T
ENST00000548169.2:c.474G>T
ENST00000549840.1:n.39G>T
NM_001681.3:c.803G>T NP_001672.1:p.Cys268Phe
NM_170665.3:c.803G>T NP_733765.1:p.Cys268Phe
XM_005253888.1:c.803G>T XP_005253945.1:p.Cys268Phe
XM_011538402.1:c.803G>T XP_011536704.1:p.Cys268Phe
XM_011538403.1:c.803G>T XP_011536705.1:p.Cys268Phe
XR_243009.1:n.809G>T
XM_005253888.3:c.803G>T XP_005253945.1:p.Cys268Phe
XM_011538402.3:c.803G>T XP_011536704.1:p.Cys268Phe
XR_002957329.1:n.809G>T
XR_243009.3:n.809G>T
NM_170665.4:c.803G>T MANE Select NP_733765.1:p.Cys268Phe
NM_001681.4:c.803G>T NP_001672.1:p.Cys268Phe