Canonical Allele Identifier: CA386672711

Gene: ATP2A2

Linked Data

• MyVariant Identifiers: chr12:g.110777311G>A (hg19) ; chr12:g.110339506G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110339506G>A , CM000674.2:g.110339506G>A	GRCh38
NC_000012.11:g.110777311G>A , CM000674.1:g.110777311G>A	GRCh37
NC_000012.10:g.109261694G>A	NCBI36
NG_007097.2:g.62880G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000539276.7:c.1546G>A MANE Select	ENSP00000440045.2:p.Ala516Thr
ENST00000308664.10:c.1546G>A	ENSP00000311186.6:p.Ala516Thr
ENST00000377685.9:c.*1386G>A	ENSP00000366913.4:n.*1386G>A
ENST00000539276.6:c.1546G>A	ENSP00000440045.2:p.Ala516Thr
ENST00000548169.2:c.1217G>A
NM_001681.3:c.1546G>A	NP_001672.1:p.Ala516Thr
NM_170665.3:c.1546G>A	NP_733765.1:p.Ala516Thr
XM_005253888.1:c.1546G>A	XP_005253945.1:p.Ala516Thr
XM_011538402.1:c.1546G>A	XP_011536704.1:p.Ala516Thr
XM_011538403.1:c.1546G>A	XP_011536705.1:p.Ala516Thr
XR_243009.1:n.1552G>A
XM_005253888.3:c.1546G>A	XP_005253945.1:p.Ala516Thr
XM_011538402.3:c.1546G>A	XP_011536704.1:p.Ala516Thr
XR_002957329.1:n.1552G>A
XR_243009.3:n.1552G>A
NM_170665.4:c.1546G>A MANE Select	NP_733765.1:p.Ala516Thr
NM_001681.4:c.1546G>A	NP_001672.1:p.Ala516Thr