Canonical Allele Identifier: CA10640932
Gene: ATP2A2 HGNC NCBI
gnomAD v2:
12:110788853 G / A
gnomAD v3:
12:110351048 G / A
gnomAD v4:
chr12-110351048-G-A
Joint Max Group AF 0.00090199 (EAS)
Genomes Max Group AF 0.00090321 (EAS)
ClinVar RCV:
RCV000332832
ClinVar Variation:
307196
dbSNP:
143926209
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110351048G>A , CM000674.2:g.110351048G>A GRCh38
NC_000012.11:g.110788853G>A , CM000674.1:g.110788853G>A GRCh37
NC_000012.10:g.109273236G>A NCBI36
NG_007097.2:g.74422G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000539276.7:c.*4578G>A MANE Select ENSP00000440045.2:n.*4578G>A
ENST00000308664.10:c.*743G>A ENSP00000311186.6:n.*743G>A
ENST00000313432.5:n.5530G>A
ENST00000377685.9:c.*5047G>A ENSP00000366913.4:n.*5047G>A
NM_001681.3:c.*743G>A NP_001672.1:n.*743G>A
NM_170665.3:c.*4578G>A NP_733765.1:n.*4578G>A
XM_005253888.1:c.*798G>A XP_005253945.1:n.*798G>A
XR_243009.1:n.4142G>A
XR_002957329.1:n.5213G>A
XR_243009.3:n.4142G>A
NM_170665.4:c.*4578G>A MANE Select NP_733765.1:n.*4578G>A
NM_001681.4:c.*743G>A NP_001672.1:n.*743G>A
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