Canonical Allele Identifier: CA8194103

Gene: PLCG2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81919590G>A , CM000678.2:g.81919590G>A	GRCh38
NC_000016.9:g.81953195G>A , CM000678.1:g.81953195G>A	GRCh37
NC_000016.8:g.80510696G>A	NCBI36
NG_032019.2:g.185494G>A , LRG_376:g.185494G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570198.2:n.1279G>A
ENST00000697562.1:c.*1021G>A	ENSP00000513338.1:n.*1021G>A
ENST00000697563.1:c.*2007G>A	ENSP00000513339.1:n.*2007G>A
ENST00000697564.1:c.2044G>A	ENSP00000513340.1:p.Glu682Lys
ENST00000697581.1:c.*2155G>A	ENSP00000513346.1:n.*2155G>A
ENST00000697582.1:c.2161G>A	ENSP00000513347.1:p.Glu721Lys
ENST00000697583.1:c.1960G>A	ENSP00000513349.1:p.Glu654Lys
ENST00000697584.1:c.1960G>A	ENSP00000513350.1:p.Glu654Lys
ENST00000697585.1:c.1960G>A	ENSP00000513351.1:p.Glu654Lys
ENST00000697586.1:c.1960G>A	ENSP00000513352.1:p.Glu654Lys
ENST00000697587.1:c.1960G>A	ENSP00000513353.1:p.Glu654Lys
ENST00000564138.6:c.2161G>A MANE Select	ENSP00000482457.1:p.Glu721Lys
ENST00000359376.7:c.2161G>A	ENSP00000352336.4:p.Glu721Lys
ENST00000564138.5:c.2161G>A	ENSP00000482457.1:p.Glu721Lys
ENST00000567980.5:n.2405G>A
NM_002661.4:c.2161G>A	NP_002652.2:p.Glu721Lys
XM_011523108.1:c.2275G>A	XP_011521410.1:p.Glu759Lys
NM_002661.5:c.2161G>A MANE Select	NP_002652.2:p.Glu721Lys