Canonical Allele Identifier: CA386675575

Gene: ATP2A2

Linked Data

• dbSNP Id: rs1592863399
• gnomAD v4: 12-110342312-A-C
• MyVariant Identifiers: chr12:g.110780117A>C (hg19) ; chr12:g.110342312A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110342312A>C , CM000674.2:g.110342312A>C	GRCh38
NC_000012.11:g.110780117A>C , CM000674.1:g.110780117A>C	GRCh37
NC_000012.10:g.109264500A>C	NCBI36
NG_007097.2:g.65686A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2182A>C MANE Select	ENSP00000440045.2:p.Thr728Pro
ENST00000308664.10:c.2182A>C	ENSP00000311186.6:p.Thr728Pro
ENST00000377685.9:c.*2022A>C	ENSP00000366913.4:n.*2022A>C
ENST00000539276.6:c.2182A>C	ENSP00000440045.2:p.Thr728Pro
ENST00000548169.2:c.1853A>C
NM_001681.3:c.2182A>C	NP_001672.1:p.Thr728Pro
NM_170665.3:c.2182A>C	NP_733765.1:p.Thr728Pro
XM_005253888.1:c.2182A>C	XP_005253945.1:p.Thr728Pro
XM_011538402.1:c.2182A>C	XP_011536704.1:p.Thr728Pro
XM_011538403.1:c.2182A>C	XP_011536705.1:p.Thr728Pro
XR_243009.1:n.2188A>C
XM_005253888.3:c.2182A>C	XP_005253945.1:p.Thr728Pro
XM_011538402.3:c.2182A>C	XP_011536704.1:p.Thr728Pro
XR_002957329.1:n.2188A>C
XR_243009.3:n.2188A>C
NM_170665.4:c.2182A>C MANE Select	NP_733765.1:p.Thr728Pro
NM_001681.4:c.2182A>C	NP_001672.1:p.Thr728Pro