Canonical Allele Identifier: CA127429

Gene: ATP2A2

Linked Data

• ClinVar Variation Id: 17800
• ClinVar RCV Id: RCV000019378 ; RCV001729353
• dbSNP Id: rs121912738
• MyVariant Identifiers: chr12:g.110734471G>A (hg19) ; chr12:g.110296666G>A (hg38)
• PubMed: PMID:10441323 ; PMID:11168576 ; PMID:12072062

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110296666G>A , CM000674.2:g.110296666G>A	GRCh38
NC_000012.11:g.110734471G>A , CM000674.1:g.110734471G>A	GRCh37
NC_000012.10:g.109218854G>A	NCBI36
NG_007097.2:g.20040G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000552636.2:c.17G>A	ENSP00000447406.2:p.Arg6Gln
ENST00000539276.7:c.392G>A MANE Select	ENSP00000440045.2:p.Arg131Gln
ENST00000308664.10:c.392G>A	ENSP00000311186.6:p.Arg131Gln
ENST00000377685.9:c.*232G>A	ENSP00000366913.4:n.*232G>A
ENST00000539276.6:c.392G>A	ENSP00000440045.2:p.Arg131Gln
ENST00000548169.2:c.144G>A
ENST00000550248.2:n.392G>A
ENST00000552636.1:c.91G>A	ENSP00000447406.1:p.Asp31Asn
NM_001681.3:c.392G>A	NP_001672.1:p.Arg131Gln
NM_170665.3:c.392G>A	NP_733765.1:p.Arg131Gln
XM_005253888.1:c.392G>A	XP_005253945.1:p.Arg131Gln
XM_011538402.1:c.392G>A	XP_011536704.1:p.Arg131Gln
XM_011538403.1:c.392G>A	XP_011536705.1:p.Arg131Gln
XR_243009.1:n.398G>A
XM_005253888.3:c.392G>A	XP_005253945.1:p.Arg131Gln
XM_011538402.3:c.392G>A	XP_011536704.1:p.Arg131Gln
XR_002957329.1:n.398G>A
XR_243009.3:n.398G>A
NM_170665.4:c.392G>A MANE Select	NP_733765.1:p.Arg131Gln
NM_001681.4:c.392G>A	NP_001672.1:p.Arg131Gln