Canonical Allele Identifier: CA9429804

Gene: PLEKHG2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.39423597G>A , CM000681.2:g.39423597G>A	GRCh38
NC_000019.9:g.39914237G>A , CM000681.1:g.39914237G>A	GRCh37
NC_000019.8:g.44606077G>A	NCBI36
NG_054904.1:g.16016G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022835.3:c.2543G>A MANE Select	NP_073746.2:p.Arg848Gln
ENST00000425673.6:c.2543G>A MANE Select	ENSP00000392906.2:p.Arg848Gln
NM_001351693.1:c.2366G>A	NP_001338622.1:p.Arg789Gln
NM_001351693.2:c.2366G>A	NP_001338622.1:p.Arg789Gln
NM_001351694.1:c.1677+1309G>A	NP_001338623.1:n.1677+1309G>A
NM_001351694.2:c.1677+1309G>A	NP_001338623.1:n.1677+1309G>A
NM_022835.2:c.2543G>A	NP_073746.2:p.Arg848Gln
ENST00000205135.8:c.2146G>A
ENST00000409797.6:c.1677+1309G>A	ENSP00000386492.1:n.1677+1309G>A
ENST00000425673.5:c.2543G>A	ENSP00000392906.2:p.Arg848Gln
ENST00000458508.6:c.2366G>A	ENSP00000408857.2:p.Arg789Gln
ENST00000596443.1:c.291+1309G>A	ENSP00000468829.1:n.291+1309G>A
ENST00000600210.1:c.170G>A	ENSP00000473251.1:p.Arg57Gln
XM_005259163.1:c.2543G>A	XP_005259220.1:p.Arg848Gln
XM_005259163.2:c.2543G>A	XP_005259220.1:p.Arg848Gln
XM_006723332.1:c.2546G>A	XP_006723395.1:p.Arg849Gln
XM_006723333.1:c.2543G>A	XP_006723396.1:p.Arg848Gln
XM_006723334.1:c.2366G>A	XP_006723397.1:p.Arg789Gln
XM_006723334.2:c.2366G>A	XP_006723397.1:p.Arg789Gln
XM_011527231.1:c.2546G>A	XP_011525533.1:p.Arg849Gln
XM_011527232.1:c.2546G>A	XP_011525534.1:p.Arg849Gln
XM_011527232.2:c.2546G>A	XP_011525534.1:p.Arg849Gln
XM_011527233.1:c.2507G>A	XP_011525535.1:p.Arg836Gln
XM_011527234.1:c.2498G>A	XP_011525536.1:p.Arg833Gln
XM_017027150.1:c.2507G>A	XP_016882639.1:p.Arg836Gln
XM_017027151.1:c.2498G>A	XP_016882640.1:p.Arg833Gln
XR_002958344.1:n.3477G>A