Canonical Allele Identifier: CA6784001

Gene: ATP2A2

Linked Data

• ClinVar Variation Id: 996841
• ClinVar RCV Id: RCV001291644
• dbSNP Id: rs373030579
• ExAC: 12:110778626 G / A
• gnomAD v2: 12-110778626-G-A
• gnomAD v3: 12-110340821-G-A
• gnomAD v4: 12-110340821-G-A
• MyVariant Identifiers: chr12:g.110778626G>A (hg19) ; chr12:g.110340821G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110340821G>A , CM000674.2:g.110340821G>A	GRCh38
NC_000012.11:g.110778626G>A , CM000674.1:g.110778626G>A	GRCh37
NC_000012.10:g.109263009G>A	NCBI36
NG_007097.2:g.64195G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.1924G>A MANE Select	ENSP00000440045.2:p.Gly642Arg
ENST00000308664.10:c.1924G>A	ENSP00000311186.6:p.Gly642Arg
ENST00000377685.9:c.*1764G>A	ENSP00000366913.4:n.*1764G>A
ENST00000539276.6:c.1924G>A	ENSP00000440045.2:p.Gly642Arg
ENST00000548169.2:c.1595G>A
NM_001681.3:c.1924G>A	NP_001672.1:p.Gly642Arg
NM_170665.3:c.1924G>A	NP_733765.1:p.Gly642Arg
XM_005253888.1:c.1924G>A	XP_005253945.1:p.Gly642Arg
XM_011538402.1:c.1924G>A	XP_011536704.1:p.Gly642Arg
XM_011538403.1:c.1924G>A	XP_011536705.1:p.Gly642Arg
XR_243009.1:n.1930G>A
XM_005253888.3:c.1924G>A	XP_005253945.1:p.Gly642Arg
XM_011538402.3:c.1924G>A	XP_011536704.1:p.Gly642Arg
XR_002957329.1:n.1930G>A
XR_243009.3:n.1930G>A
NM_170665.4:c.1924G>A MANE Select	NP_733765.1:p.Gly642Arg
NM_001681.4:c.1924G>A	NP_001672.1:p.Gly642Arg