Canonical Allele Identifier: CA386678034

Gene: ATP2A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110346280A>T , CM000674.2:g.110346280A>T	GRCh38
NC_000012.11:g.110784085A>T , CM000674.1:g.110784085A>T	GRCh37
NC_000012.10:g.109268468A>T	NCBI36
NG_007097.2:g.69654A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_170665.4:c.2939A>T MANE Select	NP_733765.1:p.Asp980Val
ENST00000539276.7:c.2939A>T MANE Select	ENSP00000440045.2:p.Asp980Val
NM_001681.3:c.2939A>T	NP_001672.1:p.Asp980Val
NM_001681.4:c.2939A>T	NP_001672.1:p.Asp980Val
NM_170665.3:c.2939A>T	NP_733765.1:p.Asp980Val
ENST00000308664.10:c.2939A>T	ENSP00000311186.6:p.Asp980Val
ENST00000313432.5:n.762A>T
ENST00000377685.9:c.*2779A>T	ENSP00000366913.4:n.*2779A>T
ENST00000539276.6:c.2939A>T	ENSP00000440045.2:p.Asp980Val
ENST00000548169.2:c.2610A>T
ENST00000553144.1:c.80A>T	ENSP00000450407.2:p.Asp27Val
XM_005253888.1:c.2939A>T	XP_005253945.1:p.Asp980Val
XM_005253888.3:c.2939A>T	XP_005253945.1:p.Asp980Val
XM_011538402.1:c.2939A>T	XP_011536704.1:p.Asp980Val
XM_011538402.3:c.2939A>T	XP_011536704.1:p.Asp980Val
XR_002957329.1:n.2945A>T
XR_243009.1:n.2945A>T
XR_243009.3:n.2945A>T