Canonical Allele Identifier: CA405795907

Gene: PLEKHG2

Linked Data

• MyVariant Identifiers: chr19:g.39913402G>C (hg19) ; chr19:g.39422762G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.39422762G>C , CM000681.2:g.39422762G>C	GRCh38
NC_000019.9:g.39913402G>C , CM000681.1:g.39913402G>C	GRCh37
NC_000019.8:g.44605242G>C	NCBI36
NG_054904.1:g.15181G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425673.6:c.1708G>C MANE Select	ENSP00000392906.2:p.Gly570Arg
ENST00000205135.8:c.1311G>C
ENST00000409797.6:c.1677+474G>C	ENSP00000386492.1:n.1677+474G>C
ENST00000425673.5:c.1708G>C	ENSP00000392906.2:p.Gly570Arg
ENST00000458508.6:c.1531G>C	ENSP00000408857.2:p.Gly511Arg
ENST00000474449.1:n.654G>C
ENST00000596443.1:c.291+474G>C	ENSP00000468829.1:n.291+474G>C
NM_022835.2:c.1708G>C	NP_073746.2:p.Gly570Arg
XM_005259163.1:c.1708G>C	XP_005259220.1:p.Gly570Arg
XM_006723332.1:c.1711G>C	XP_006723395.1:p.Gly571Arg
XM_006723333.1:c.1708G>C	XP_006723396.1:p.Gly570Arg
XM_006723334.1:c.1531G>C	XP_006723397.1:p.Gly511Arg
XM_011527231.1:c.1711G>C	XP_011525533.1:p.Gly571Arg
XM_011527232.1:c.1711G>C	XP_011525534.1:p.Gly571Arg
XM_011527233.1:c.1672G>C	XP_011525535.1:p.Gly558Arg
XM_011527234.1:c.1663G>C	XP_011525536.1:p.Gly555Arg
NM_001351693.1:c.1531G>C	NP_001338622.1:p.Gly511Arg
NM_001351694.1:c.1677+474G>C	NP_001338623.1:n.1677+474G>C
XM_005259163.2:c.1708G>C	XP_005259220.1:p.Gly570Arg
XM_006723334.2:c.1531G>C	XP_006723397.1:p.Gly511Arg
XM_011527232.2:c.1711G>C	XP_011525534.1:p.Gly571Arg
XM_017027150.1:c.1672G>C	XP_016882639.1:p.Gly558Arg
XM_017027151.1:c.1663G>C	XP_016882640.1:p.Gly555Arg
XR_002958344.1:n.2642G>C
NM_022835.3:c.1708G>C MANE Select	NP_073746.2:p.Gly570Arg
NM_001351693.2:c.1531G>C	NP_001338622.1:p.Gly511Arg
NM_001351694.2:c.1677+474G>C	NP_001338623.1:n.1677+474G>C