Canonical Allele Identifier: CA8193550

Gene: PLCG2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81893709G>A , CM000678.2:g.81893709G>A	GRCh38
NC_000016.9:g.81927314G>A , CM000678.1:g.81927314G>A	GRCh37
NC_000016.8:g.80484815G>A	NCBI36
NG_032019.2:g.159613G>A , LRG_376:g.159613G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002661.5:c.987G>A MANE Select	NP_002652.2:p.Thr329=
ENST00000564138.6:c.987G>A MANE Select	ENSP00000482457.1:p.Thr329=
NM_002661.4:c.987G>A	NP_002652.2:p.Thr329=
ENST00000359376.7:c.987G>A	ENSP00000352336.4:p.Thr329=
ENST00000562605.5:n.181G>A
ENST00000563193.1:c.295G>A
ENST00000563193.2:c.987G>A	ENSP00000455533.2:p.Thr329=
ENST00000563375.1:c.61-2098G>A
ENST00000563375.2:c.61-2098G>A
ENST00000564138.5:c.987G>A	ENSP00000482457.1:p.Thr329=
ENST00000567980.5:n.1231G>A
ENST00000697561.1:c.*416G>A	ENSP00000513337.1:n.*416G>A
ENST00000697562.1:c.987G>A	ENSP00000513338.1:p.Thr329=
ENST00000697563.1:c.*833G>A	ENSP00000513339.1:n.*833G>A
ENST00000697564.1:c.870G>A	ENSP00000513340.1:p.Thr290=
ENST00000697565.1:n.927G>A
ENST00000697581.1:c.*981G>A	ENSP00000513346.1:n.*981G>A
ENST00000697582.1:c.987G>A	ENSP00000513347.1:p.Thr329=
ENST00000697583.1:c.786G>A	ENSP00000513349.1:p.Thr262=
ENST00000697584.1:c.786G>A	ENSP00000513350.1:p.Thr262=
ENST00000697585.1:c.786G>A	ENSP00000513351.1:p.Thr262=
ENST00000697586.1:c.786G>A	ENSP00000513352.1:p.Thr262=
ENST00000697587.1:c.786G>A	ENSP00000513353.1:p.Thr262=
XM_011523108.1:c.1101G>A	XP_011521410.1:p.Thr367=