Canonical Allele Identifier: CA8193613

Gene: PLCG2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81895880T>C , CM000678.2:g.81895880T>C	GRCh38
NC_000016.9:g.81929485T>C , CM000678.1:g.81929485T>C	GRCh37
NC_000016.8:g.80486986T>C	NCBI36
NG_032019.2:g.161784T>C , LRG_376:g.161784T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563193.2:c.1146T>C	ENSP00000455533.2:p.Phe382=
ENST00000563375.2:c.134T>C
ENST00000570198.2:n.264T>C
ENST00000697562.1:c.1146T>C	ENSP00000513338.1:p.Phe382=
ENST00000697563.1:c.*992T>C	ENSP00000513339.1:n.*992T>C
ENST00000697564.1:c.1029T>C	ENSP00000513340.1:p.Phe343=
ENST00000697565.1:n.1086T>C
ENST00000697581.1:c.*1140T>C	ENSP00000513346.1:n.*1140T>C
ENST00000697582.1:c.1146T>C	ENSP00000513347.1:p.Phe382=
ENST00000697583.1:c.945T>C	ENSP00000513349.1:p.Phe315=
ENST00000697584.1:c.945T>C	ENSP00000513350.1:p.Phe315=
ENST00000697585.1:c.945T>C	ENSP00000513351.1:p.Phe315=
ENST00000697586.1:c.945T>C	ENSP00000513352.1:p.Phe315=
ENST00000697587.1:c.945T>C	ENSP00000513353.1:p.Phe315=
ENST00000564138.6:c.1146T>C MANE Select	ENSP00000482457.1:p.Phe382=
ENST00000359376.7:c.1146T>C	ENSP00000352336.4:p.Phe382=
ENST00000562605.5:n.340T>C
ENST00000563193.1:c.454T>C
ENST00000563375.1:c.134T>C
ENST00000564138.5:c.1146T>C	ENSP00000482457.1:p.Phe382=
ENST00000567980.5:n.1390T>C
ENST00000570198.1:n.262T>C
NM_002661.4:c.1146T>C	NP_002652.2:p.Phe382=
XM_011523108.1:c.1260T>C	XP_011521410.1:p.Phe420=
NM_002661.5:c.1146T>C MANE Select	NP_002652.2:p.Phe382=