Canonical Allele Identifier: CA481868418

Gene: ATP2A2

Linked Data

• dbSNP Id: rs1879152142
• MyVariant Identifiers: chr12:g.110777313T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110339508T>C , CM000674.2:g.110339508T>C	GRCh38
NC_000012.11:g.110777313T>C , CM000674.1:g.110777313T>C	GRCh37
NC_000012.10:g.109261696T>C	NCBI36
NG_007097.2:g.62882T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000539276.7:c.1548T>C MANE Select	ENSP00000440045.2:p.Ala516=
ENST00000308664.10:c.1548T>C	ENSP00000311186.6:p.Ala516=
ENST00000377685.9:c.*1388T>C	ENSP00000366913.4:n.*1388T>C
ENST00000539276.6:c.1548T>C	ENSP00000440045.2:p.Ala516=
ENST00000548169.2:c.1219T>C
NM_001681.3:c.1548T>C	NP_001672.1:p.Ala516=
NM_170665.3:c.1548T>C	NP_733765.1:p.Ala516=
XM_005253888.1:c.1548T>C	XP_005253945.1:p.Ala516=
XM_011538402.1:c.1548T>C	XP_011536704.1:p.Ala516=
XM_011538403.1:c.1548T>C	XP_011536705.1:p.Ala516=
XR_243009.1:n.1554T>C
XM_005253888.3:c.1548T>C	XP_005253945.1:p.Ala516=
XM_011538402.3:c.1548T>C	XP_011536704.1:p.Ala516=
XR_002957329.1:n.1554T>C
XR_243009.3:n.1554T>C
NM_170665.4:c.1548T>C MANE Select	NP_733765.1:p.Ala516=
NM_001681.4:c.1548T>C	NP_001672.1:p.Ala516=