Canonical Allele Identifier: CA243523710

Gene: ATP2A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110350610C>T , CM000674.2:g.110350610C>T	GRCh38
NC_000012.11:g.110788415C>T , CM000674.1:g.110788415C>T	GRCh37
NC_000012.10:g.109272798C>T	NCBI36
NG_007097.2:g.73984C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_170665.4:c.*4140C>T MANE Select	NP_733765.1:n.*4140C>T
ENST00000539276.7:c.*4140C>T MANE Select	ENSP00000440045.2:n.*4140C>T
NM_001681.3:c.*305C>T	NP_001672.1:n.*305C>T
NM_001681.4:c.*305C>T	NP_001672.1:n.*305C>T
NM_170665.3:c.*4140C>T	NP_733765.1:n.*4140C>T
ENST00000308664.10:c.*305C>T	ENSP00000311186.6:n.*305C>T
ENST00000313432.5:n.5092C>T
ENST00000377685.9:c.*4609C>T	ENSP00000366913.4:n.*4609C>T
XM_005253888.1:c.*360C>T	XP_005253945.1:n.*360C>T
XM_005253888.3:c.*360C>T	XP_005253945.1:n.*360C>T
XR_002957329.1:n.4775C>T
XR_243009.1:n.3704C>T
XR_243009.3:n.3704C>T