Canonical Allele Identifier: CA386674555

Gene: ATP2A2

Linked Data

• MyVariant Identifiers: chr12:g.110778478C>A (hg19) ; chr12:g.110340673C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110340673C>A , CM000674.2:g.110340673C>A	GRCh38
NC_000012.11:g.110778478C>A , CM000674.1:g.110778478C>A	GRCh37
NC_000012.10:g.109262861C>A	NCBI36
NG_007097.2:g.64047C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.1776C>A MANE Select	ENSP00000440045.2:p.Phe592Leu
ENST00000308664.10:c.1776C>A	ENSP00000311186.6:p.Phe592Leu
ENST00000377685.9:c.*1616C>A	ENSP00000366913.4:n.*1616C>A
ENST00000539276.6:c.1776C>A	ENSP00000440045.2:p.Phe592Leu
ENST00000548169.2:c.1447C>A
NM_001681.3:c.1776C>A	NP_001672.1:p.Phe592Leu
NM_170665.3:c.1776C>A	NP_733765.1:p.Phe592Leu
XM_005253888.1:c.1776C>A	XP_005253945.1:p.Phe592Leu
XM_011538402.1:c.1776C>A	XP_011536704.1:p.Phe592Leu
XM_011538403.1:c.1776C>A	XP_011536705.1:p.Phe592Leu
XR_243009.1:n.1782C>A
XM_005253888.3:c.1776C>A	XP_005253945.1:p.Phe592Leu
XM_011538402.3:c.1776C>A	XP_011536704.1:p.Phe592Leu
XR_002957329.1:n.1782C>A
XR_243009.3:n.1782C>A
NM_170665.4:c.1776C>A MANE Select	NP_733765.1:p.Phe592Leu
NM_001681.4:c.1776C>A	NP_001672.1:p.Phe592Leu