Canonical Allele Identifier: CA18269530

Gene: PLEKHM2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15733874C>T , CM000663.2:g.15733874C>T	GRCh38
NC_000001.10:g.16060369C>T , CM000663.1:g.16060369C>T	GRCh37
NC_000001.9:g.15932956C>T	NCBI36
NG_053033.1:g.57369C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375799.8:c.3000C>T MANE Select	ENSP00000364956.3:p.Ser1000=
ENST00000642363.1:c.2877C>T	ENSP00000494591.1:p.Ser959=
ENST00000375793.2:c.2940C>T	ENSP00000364950.2:p.Ser980=
ENST00000375799.7:c.3000C>T	ENSP00000364956.3:p.Ser1000=
ENST00000477849.1:n.816C>T
NM_015164.2:c.3000C>T	NP_055979.2:p.Ser1000=
XM_005245790.2:c.2940C>T	XP_005245847.1:p.Ser980=
XM_005245791.3:c.2391C>T	XP_005245848.1:p.Ser797=
NM_015164.3:c.3000C>T	NP_055979.2:p.Ser1000=
XM_005245790.4:c.2940C>T	XP_005245847.1:p.Ser980=
XM_005245791.4:c.2391C>T	XP_005245848.1:p.Ser797=
XM_017000757.1:c.3039C>T	XP_016856246.1:p.Ser1013=
XM_017000758.1:c.2979C>T	XP_016856247.1:p.Ser993=
NM_015164.4:c.3000C>T MANE Select	NP_055979.2:p.Ser1000=