Canonical Allele Identifier: CA416183989

Gene: PLEKHM2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15731928G>A , CM000663.2:g.15731928G>A	GRCh38
NC_000001.10:g.16058423G>A , CM000663.1:g.16058423G>A	GRCh37
NC_000001.9:g.15931010G>A	NCBI36
NG_053033.1:g.55423G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375799.8:c.2505G>A MANE Select	ENSP00000364956.3:p.Thr835=
ENST00000642363.1:c.2382G>A	ENSP00000494591.1:p.Thr794=
ENST00000375793.2:c.2445G>A	ENSP00000364950.2:p.Thr815=
ENST00000375799.7:c.2505G>A	ENSP00000364956.3:p.Thr835=
ENST00000477849.1:n.343-22G>A
NM_015164.2:c.2505G>A	NP_055979.2:p.Thr835=
XM_005245790.2:c.2445G>A	XP_005245847.1:p.Thr815=
XM_005245791.3:c.1896G>A	XP_005245848.1:p.Thr632=
XR_946590.1:n.2758-22G>A
NM_015164.3:c.2505G>A	NP_055979.2:p.Thr835=
XM_005245790.4:c.2445G>A	XP_005245847.1:p.Thr815=
XM_005245791.4:c.1896G>A	XP_005245848.1:p.Thr632=
XM_017000757.1:c.2544G>A	XP_016856246.1:p.Thr848=
XM_017000758.1:c.2484G>A	XP_016856247.1:p.Thr828=
NM_015164.4:c.2505G>A MANE Select	NP_055979.2:p.Thr835=