Canonical Allele Identifier: CA386675972

Gene: ATP2A2

Linked Data

• MyVariant Identifiers: chr12:g.110781071G>A (hg19) ; chr12:g.110343266G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110343266G>A , CM000674.2:g.110343266G>A	GRCh38
NC_000012.11:g.110781071G>A , CM000674.1:g.110781071G>A	GRCh37
NC_000012.10:g.109265454G>A	NCBI36
NG_007097.2:g.66640G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2353G>A MANE Select	ENSP00000440045.2:p.Ala785Thr
ENST00000308664.10:c.2353G>A	ENSP00000311186.6:p.Ala785Thr
ENST00000377685.9:c.*2193G>A	ENSP00000366913.4:n.*2193G>A
ENST00000539276.6:c.2353G>A	ENSP00000440045.2:p.Ala785Thr
ENST00000547792.1:n.11G>A
ENST00000548169.2:c.2024G>A
NM_001681.3:c.2353G>A	NP_001672.1:p.Ala785Thr
NM_170665.3:c.2353G>A	NP_733765.1:p.Ala785Thr
XM_005253888.1:c.2353G>A	XP_005253945.1:p.Ala785Thr
XM_011538402.1:c.2353G>A	XP_011536704.1:p.Ala785Thr
XM_011538403.1:c.2353G>A	XP_011536705.1:p.Ala785Thr
XR_243009.1:n.2359G>A
XM_005253888.3:c.2353G>A	XP_005253945.1:p.Ala785Thr
XM_011538402.3:c.2353G>A	XP_011536704.1:p.Ala785Thr
XR_002957329.1:n.2359G>A
XR_243009.3:n.2359G>A
NM_170665.4:c.2353G>A MANE Select	NP_733765.1:p.Ala785Thr
NM_001681.4:c.2353G>A	NP_001672.1:p.Ala785Thr