Canonical Allele Identifier: CA243508339

Gene: ATP2A2

Linked Data

• ClinVar Variation Id: 3131510
• ClinVar RCV Id: RCV004418369
• dbSNP Id: rs532508915
• gnomAD v4: 12-110340812-G-A
• MyVariant Identifiers: chr12:g.110778617G>A (hg19) ; chr12:g.110340812G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110340812G>A , CM000674.2:g.110340812G>A	GRCh38
NC_000012.11:g.110778617G>A , CM000674.1:g.110778617G>A	GRCh37
NC_000012.10:g.109263000G>A	NCBI36
NG_007097.2:g.64186G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.1915G>A MANE Select	ENSP00000440045.2:p.Gly639Ser
ENST00000308664.10:c.1915G>A	ENSP00000311186.6:p.Gly639Ser
ENST00000377685.9:c.*1755G>A	ENSP00000366913.4:n.*1755G>A
ENST00000539276.6:c.1915G>A	ENSP00000440045.2:p.Gly639Ser
ENST00000548169.2:c.1586G>A
NM_001681.3:c.1915G>A	NP_001672.1:p.Gly639Ser
NM_170665.3:c.1915G>A	NP_733765.1:p.Gly639Ser
XM_005253888.1:c.1915G>A	XP_005253945.1:p.Gly639Ser
XM_011538402.1:c.1915G>A	XP_011536704.1:p.Gly639Ser
XM_011538403.1:c.1915G>A	XP_011536705.1:p.Gly639Ser
XR_243009.1:n.1921G>A
XM_005253888.3:c.1915G>A	XP_005253945.1:p.Gly639Ser
XM_011538402.3:c.1915G>A	XP_011536704.1:p.Gly639Ser
XR_002957329.1:n.1921G>A
XR_243009.3:n.1921G>A
NM_170665.4:c.1915G>A MANE Select	NP_733765.1:p.Gly639Ser
NM_001681.4:c.1915G>A	NP_001672.1:p.Gly639Ser