Canonical Allele Identifier: CA16042777
Gene: ATP2A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 373516
ClinVar RCV Id: RCV000414137
dbSNP Id: rs1057518457

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110339501A>C , CM000674.2:g.110339501A>C GRCh38
NC_000012.11:g.110777306A>C , CM000674.1:g.110777306A>C GRCh37
NC_000012.10:g.109261689A>C NCBI36
NG_007097.2:g.62875A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000539276.7:c.1543-2A>C MANE Select ENSP00000440045.2:n.1543-2A>C
ENST00000308664.10:c.1543-2A>C ENSP00000311186.6:n.1543-2A>C
ENST00000377685.9:c.*1383-2A>C ENSP00000366913.4:n.*1383-2A>C
ENST00000539276.6:c.1543-2A>C ENSP00000440045.2:n.1543-2A>C
ENST00000548169.2:c.1214-2A>C
NM_001681.3:c.1543-2A>C NP_001672.1:n.1543-2A>C
NM_170665.3:c.1543-2A>C NP_733765.1:n.1543-2A>C
XM_005253888.1:c.1543-2A>C XP_005253945.1:n.1543-2A>C
XM_011538402.1:c.1543-2A>C XP_011536704.1:n.1543-2A>C
XM_011538403.1:c.1543-2A>C XP_011536705.1:n.1543-2A>C
XR_243009.1:n.1549-2A>C
XM_005253888.3:c.1543-2A>C XP_005253945.1:n.1543-2A>C
XM_011538402.3:c.1543-2A>C XP_011536704.1:n.1543-2A>C
XR_002957329.1:n.1549-2A>C
XR_243009.3:n.1549-2A>C
NM_170665.4:c.1543-2A>C MANE Select NP_733765.1:n.1543-2A>C
NM_001681.4:c.1543-2A>C NP_001672.1:n.1543-2A>C