Canonical Allele Identifier: CA617182

Gene: PLEKHM2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15730519G>A , CM000663.2:g.15730519G>A	GRCh38
NC_000001.10:g.16057014G>A , CM000663.1:g.16057014G>A	GRCh37
NC_000001.9:g.15929601G>A	NCBI36
NG_053033.1:g.54014G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375799.8:c.2209-13G>A MANE Select	ENSP00000364956.3:n.2209-13G>A
ENST00000642363.1:c.2086-13G>A	ENSP00000494591.1:n.2086-13G>A
ENST00000375793.2:c.2149-13G>A	ENSP00000364950.2:n.2149-13G>A
ENST00000375799.7:c.2209-13G>A	ENSP00000364956.3:n.2209-13G>A
ENST00000477849.1:n.86-13G>A
NM_015164.2:c.2209-13G>A	NP_055979.2:n.2209-13G>A
XM_005245790.2:c.2149-13G>A	XP_005245847.1:n.2149-13G>A
XM_005245791.3:c.1600-13G>A	XP_005245848.1:n.1600-13G>A
XR_946590.1:n.2501-13G>A
NM_015164.3:c.2209-13G>A	NP_055979.2:n.2209-13G>A
XM_005245790.4:c.2149-13G>A	XP_005245847.1:n.2149-13G>A
XM_005245791.4:c.1600-13G>A	XP_005245848.1:n.1600-13G>A
XM_017000757.1:c.2248-13G>A	XP_016856246.1:n.2248-13G>A
XM_017000758.1:c.2188-13G>A	XP_016856247.1:n.2188-13G>A
NM_015164.4:c.2209-13G>A MANE Select	NP_055979.2:n.2209-13G>A