Canonical Allele Identifier: CA243507561
Gene: ATP2A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3131509
ClinVar RCV Id: RCV004418368
dbSNP Id: rs931399409

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110339626G>A , CM000674.2:g.110339626G>A GRCh38
NC_000012.11:g.110777431G>A , CM000674.1:g.110777431G>A GRCh37
NC_000012.10:g.109261814G>A NCBI36
NG_007097.2:g.63000G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000539276.7:c.1666G>A MANE Select ENSP00000440045.2:p.Asp556Asn
ENST00000308664.10:c.1666G>A ENSP00000311186.6:p.Asp556Asn
ENST00000377685.9:c.*1506G>A ENSP00000366913.4:n.*1506G>A
ENST00000539276.6:c.1666G>A ENSP00000440045.2:p.Asp556Asn
ENST00000548169.2:c.1337G>A
NM_001681.3:c.1666G>A NP_001672.1:p.Asp556Asn
NM_170665.3:c.1666G>A NP_733765.1:p.Asp556Asn
XM_005253888.1:c.1666G>A XP_005253945.1:p.Asp556Asn
XM_011538402.1:c.1666G>A XP_011536704.1:p.Asp556Asn
XM_011538403.1:c.1666G>A XP_011536705.1:p.Asp556Asn
XR_243009.1:n.1672G>A
XM_005253888.3:c.1666G>A XP_005253945.1:p.Asp556Asn
XM_011538402.3:c.1666G>A XP_011536704.1:p.Asp556Asn
XR_002957329.1:n.1672G>A
XR_243009.3:n.1672G>A
NM_170665.4:c.1666G>A MANE Select NP_733765.1:p.Asp556Asn
NM_001681.4:c.1666G>A NP_001672.1:p.Asp556Asn