Canonical Allele Identifier: CA16606469
Gene: ATP2A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 379334
ClinVar RCV Id: RCV000444570
dbSNP Id: rs1057520577

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110333180G>A , CM000674.2:g.110333180G>A GRCh38
NC_000012.11:g.110770985G>A , CM000674.1:g.110770985G>A GRCh37
NC_000012.10:g.109255368G>A NCBI36
NG_007097.2:g.56554G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000539276.7:c.1185-1G>A MANE Select ENSP00000440045.2:n.1185-1G>A
ENST00000308664.10:c.1185-1G>A ENSP00000311186.6:n.1185-1G>A
ENST00000377685.9:c.*1025-1G>A ENSP00000366913.4:n.*1025-1G>A
ENST00000539276.6:c.1185-1G>A ENSP00000440045.2:n.1185-1G>A
ENST00000548169.2:c.856-1G>A
ENST00000550262.1:n.3288-1G>A
NM_001681.3:c.1185-1G>A NP_001672.1:n.1185-1G>A
NM_170665.3:c.1185-1G>A NP_733765.1:n.1185-1G>A
XM_005253888.1:c.1185-1G>A XP_005253945.1:n.1185-1G>A
XM_011538402.1:c.1185-1G>A XP_011536704.1:n.1185-1G>A
XM_011538403.1:c.1185-1G>A XP_011536705.1:n.1185-1G>A
XR_243009.1:n.1191-1G>A
XM_005253888.3:c.1185-1G>A XP_005253945.1:n.1185-1G>A
XM_011538402.3:c.1185-1G>A XP_011536704.1:n.1185-1G>A
XR_002957329.1:n.1191-1G>A
XR_243009.3:n.1191-1G>A
NM_170665.4:c.1185-1G>A MANE Select NP_733765.1:n.1185-1G>A
NM_001681.4:c.1185-1G>A NP_001672.1:n.1185-1G>A