Canonical Allele Identifier: CA6783937

Gene: ATP2A2

Linked Data

• dbSNP Id: rs777314576
• ExAC: 12:110777361 T / C
• gnomAD v2: 12-110777361-T-C
• gnomAD v4: 12-110339556-T-C
• MyVariant Identifiers: chr12:g.110777361T>C (hg19) ; chr12:g.110339556T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110339556T>C , CM000674.2:g.110339556T>C	GRCh38
NC_000012.11:g.110777361T>C , CM000674.1:g.110777361T>C	GRCh37
NC_000012.10:g.109261744T>C	NCBI36
NG_007097.2:g.62930T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.1596T>C MANE Select	ENSP00000440045.2:p.Thr532=
ENST00000308664.10:c.1596T>C	ENSP00000311186.6:p.Thr532=
ENST00000377685.9:c.*1436T>C	ENSP00000366913.4:n.*1436T>C
ENST00000539276.6:c.1596T>C	ENSP00000440045.2:p.Thr532=
ENST00000548169.2:c.1267T>C
NM_001681.3:c.1596T>C	NP_001672.1:p.Thr532=
NM_170665.3:c.1596T>C	NP_733765.1:p.Thr532=
XM_005253888.1:c.1596T>C	XP_005253945.1:p.Thr532=
XM_011538402.1:c.1596T>C	XP_011536704.1:p.Thr532=
XM_011538403.1:c.1596T>C	XP_011536705.1:p.Thr532=
XR_243009.1:n.1602T>C
XM_005253888.3:c.1596T>C	XP_005253945.1:p.Thr532=
XM_011538402.3:c.1596T>C	XP_011536704.1:p.Thr532=
XR_002957329.1:n.1602T>C
XR_243009.3:n.1602T>C
NM_170665.4:c.1596T>C MANE Select	NP_733765.1:p.Thr532=
NM_001681.4:c.1596T>C	NP_001672.1:p.Thr532=