Canonical Allele Identifier: CA308243062

Gene: PLEKHG2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.39420975C>T , CM000681.2:g.39420975C>T	GRCh38
NC_000019.9:g.39911615C>T , CM000681.1:g.39911615C>T	GRCh37
NC_000019.8:g.44603455C>T	NCBI36
NG_054904.1:g.13394C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022835.3:c.1426C>T MANE Select	NP_073746.2:p.Arg476Cys
ENST00000425673.6:c.1426C>T MANE Select	ENSP00000392906.2:p.Arg476Cys
NM_001351693.1:c.1249C>T	NP_001338622.1:p.Arg417Cys
NM_001351693.2:c.1249C>T	NP_001338622.1:p.Arg417Cys
NM_001351694.1:c.1426C>T	NP_001338623.1:p.Arg476Cys
NM_001351694.2:c.1426C>T	NP_001338623.1:p.Arg476Cys
NM_022835.2:c.1426C>T	NP_073746.2:p.Arg476Cys
ENST00000205135.8:c.1089+123C>T
ENST00000409797.6:c.1426C>T	ENSP00000386492.1:p.Arg476Cys
ENST00000425673.5:c.1426C>T	ENSP00000392906.2:p.Arg476Cys
ENST00000458508.6:c.1249C>T	ENSP00000408857.2:p.Arg417Cys
ENST00000478523.1:n.604C>T
ENST00000596443.1:c.79C>T	ENSP00000468829.1:p.Arg27Cys
XM_005259163.1:c.1426C>T	XP_005259220.1:p.Arg476Cys
XM_005259163.2:c.1426C>T	XP_005259220.1:p.Arg476Cys
XM_006723332.1:c.1429C>T	XP_006723395.1:p.Arg477Cys
XM_006723333.1:c.1426C>T	XP_006723396.1:p.Arg476Cys
XM_006723334.1:c.1249C>T	XP_006723397.1:p.Arg417Cys
XM_006723334.2:c.1249C>T	XP_006723397.1:p.Arg417Cys
XM_011527231.1:c.1429C>T	XP_011525533.1:p.Arg477Cys
XM_011527232.1:c.1429C>T	XP_011525534.1:p.Arg477Cys
XM_011527232.2:c.1429C>T	XP_011525534.1:p.Arg477Cys
XM_011527233.1:c.1429C>T	XP_011525535.1:p.Arg477Cys
XM_011527234.1:c.1403-100C>T	XP_011525536.1:n.1403-100C>T
XM_017027150.1:c.1429C>T	XP_016882639.1:p.Arg477Cys
XM_017027151.1:c.1403-100C>T	XP_016882640.1:n.1403-100C>T
XR_002958344.1:n.2282C>T