Canonical Allele Identifier: CA6784335

Gene: ATP2A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110350293A>C , CM000674.2:g.110350293A>C	GRCh38
NC_000012.11:g.110788098A>C , CM000674.1:g.110788098A>C	GRCh37
NC_000012.10:g.109272481A>C	NCBI36
NG_007097.2:g.73667A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.*3823A>C MANE Select	ENSP00000440045.2:n.*3823A>C
ENST00000308664.10:c.2982A>C	ENSP00000311186.6:p.Ala994=
ENST00000313432.5:n.4775A>C
ENST00000377685.9:c.*4292A>C	ENSP00000366913.4:n.*4292A>C
ENST00000553144.1:c.184A>C	ENSP00000450407.2:n.184A>C
NM_001681.3:c.2982A>C	NP_001672.1:p.Ala994=
NM_170665.3:c.*3823A>C	NP_733765.1:n.*3823A>C
XM_005253888.1:c.*43A>C	XP_005253945.1:n.*43A>C
XR_243009.1:n.3387A>C
XM_005253888.3:c.*43A>C	XP_005253945.1:n.*43A>C
XR_002957329.1:n.4458A>C
XR_243009.3:n.3387A>C
NM_170665.4:c.*3823A>C MANE Select	NP_733765.1:n.*3823A>C
NM_001681.4:c.2982A>C	NP_001672.1:p.Ala994=