Canonical Allele Identifier: CA6784024

Gene: ATP2A2

Linked Data

• ClinVar Variation Id: 1098615
• ClinVar RCV Id: RCV001420559
• dbSNP Id: rs147575100
• ExAC: 12:110778758 A / G
• gnomAD v2: 12-110778758-A-G
• gnomAD v3: 12-110340953-A-G
• gnomAD v4: 12-110340953-A-G
• MyVariant Identifiers: chr12:g.110778758A>G (hg19) ; chr12:g.110340953A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110340953A>G , CM000674.2:g.110340953A>G	GRCh38
NC_000012.11:g.110778758A>G , CM000674.1:g.110778758A>G	GRCh37
NC_000012.10:g.109263141A>G	NCBI36
NG_007097.2:g.64327A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2056A>G MANE Select	ENSP00000440045.2:p.Ile686Val
ENST00000308664.10:c.2056A>G	ENSP00000311186.6:p.Ile686Val
ENST00000377685.9:c.*1896A>G	ENSP00000366913.4:n.*1896A>G
ENST00000539276.6:c.2056A>G	ENSP00000440045.2:p.Ile686Val
ENST00000548169.2:c.1727A>G
NM_001681.3:c.2056A>G	NP_001672.1:p.Ile686Val
NM_170665.3:c.2056A>G	NP_733765.1:p.Ile686Val
XM_005253888.1:c.2056A>G	XP_005253945.1:p.Ile686Val
XM_011538402.1:c.2056A>G	XP_011536704.1:p.Ile686Val
XM_011538403.1:c.2056A>G	XP_011536705.1:p.Ile686Val
XR_243009.1:n.2062A>G
XM_005253888.3:c.2056A>G	XP_005253945.1:p.Ile686Val
XM_011538402.3:c.2056A>G	XP_011536704.1:p.Ile686Val
XR_002957329.1:n.2062A>G
XR_243009.3:n.2062A>G
NM_170665.4:c.2056A>G MANE Select	NP_733765.1:p.Ile686Val
NM_001681.4:c.2056A>G	NP_001672.1:p.Ile686Val