Canonical Allele Identifier: CA386675227

Gene: ATP2A2

Linked Data

• ClinVar Variation Id: 1342440
• ClinVar RCV Id: RCV001839191
• dbSNP Id: rs1879294675
• COSMIC: COSM3792172
• MyVariant Identifiers: chr12:g.110778732G>C (hg19) ; chr12:g.110340927G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110340927G>C , CM000674.2:g.110340927G>C	GRCh38
NC_000012.11:g.110778732G>C , CM000674.1:g.110778732G>C	GRCh37
NC_000012.10:g.109263115G>C	NCBI36
NG_007097.2:g.64301G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2030G>C MANE Select	ENSP00000440045.2:p.Arg677Pro
ENST00000308664.10:c.2030G>C	ENSP00000311186.6:p.Arg677Pro
ENST00000377685.9:c.*1870G>C	ENSP00000366913.4:n.*1870G>C
ENST00000539276.6:c.2030G>C	ENSP00000440045.2:p.Arg677Pro
ENST00000548169.2:c.1701G>C
NM_001681.3:c.2030G>C	NP_001672.1:p.Arg677Pro
NM_170665.3:c.2030G>C	NP_733765.1:p.Arg677Pro
XM_005253888.1:c.2030G>C	XP_005253945.1:p.Arg677Pro
XM_011538402.1:c.2030G>C	XP_011536704.1:p.Arg677Pro
XM_011538403.1:c.2030G>C	XP_011536705.1:p.Arg677Pro
XR_243009.1:n.2036G>C
XM_005253888.3:c.2030G>C	XP_005253945.1:p.Arg677Pro
XM_011538402.3:c.2030G>C	XP_011536704.1:p.Arg677Pro
XR_002957329.1:n.2036G>C
XR_243009.3:n.2036G>C
NM_170665.4:c.2030G>C MANE Select	NP_733765.1:p.Arg677Pro
NM_001681.4:c.2030G>C	NP_001672.1:p.Arg677Pro