Canonical Allele Identifier: CA9429902

Gene: PLEKHG2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.39424108G>A , CM000681.2:g.39424108G>A	GRCh38
NC_000019.9:g.39914748G>A , CM000681.1:g.39914748G>A	GRCh37
NC_000019.8:g.44606588G>A	NCBI36
NG_054904.1:g.16527G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022835.3:c.2975G>A MANE Select	NP_073746.2:p.Arg992Lys
ENST00000425673.6:c.2975G>A MANE Select	ENSP00000392906.2:p.Arg992Lys
NM_001351693.1:c.2798G>A	NP_001338622.1:p.Arg933Lys
NM_001351693.2:c.2798G>A	NP_001338622.1:p.Arg933Lys
NM_001351694.1:c.1678-1130G>A	NP_001338623.1:n.1678-1130G>A
NM_001351694.2:c.1678-1130G>A	NP_001338623.1:n.1678-1130G>A
NM_022835.2:c.2975G>A	NP_073746.2:p.Arg992Lys
ENST00000205135.8:c.2578G>A
ENST00000409797.6:c.1678-1130G>A	ENSP00000386492.1:n.1678-1130G>A
ENST00000425673.5:c.2975G>A	ENSP00000392906.2:p.Arg992Lys
ENST00000458508.6:c.2798G>A	ENSP00000408857.2:p.Arg933Lys
ENST00000596443.1:c.292-1130G>A	ENSP00000468829.1:n.292-1130G>A
ENST00000600210.1:c.255+347G>A	ENSP00000473251.1:n.255+347G>A
XM_005259163.1:c.2975G>A	XP_005259220.1:p.Arg992Lys
XM_005259163.2:c.2975G>A	XP_005259220.1:p.Arg992Lys
XM_006723332.1:c.2978G>A	XP_006723395.1:p.Arg993Lys
XM_006723333.1:c.2975G>A	XP_006723396.1:p.Arg992Lys
XM_006723334.1:c.2798G>A	XP_006723397.1:p.Arg933Lys
XM_006723334.2:c.2798G>A	XP_006723397.1:p.Arg933Lys
XM_011527231.1:c.2978G>A	XP_011525533.1:p.Arg993Lys
XM_011527232.1:c.2978G>A	XP_011525534.1:p.Arg993Lys
XM_011527232.2:c.2978G>A	XP_011525534.1:p.Arg993Lys
XM_011527233.1:c.2939G>A	XP_011525535.1:p.Arg980Lys
XM_011527234.1:c.2930G>A	XP_011525536.1:p.Arg977Lys
XM_017027150.1:c.2939G>A	XP_016882639.1:p.Arg980Lys
XM_017027151.1:c.2930G>A	XP_016882640.1:p.Arg977Lys