Canonical Allele Identifier: CA8193610

Gene: PLCG2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81895859G>A , CM000678.2:g.81895859G>A	GRCh38
NC_000016.9:g.81929464G>A , CM000678.1:g.81929464G>A	GRCh37
NC_000016.8:g.80486965G>A	NCBI36
NG_032019.2:g.161763G>A , LRG_376:g.161763G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002661.5:c.1125G>A MANE Select	NP_002652.2:p.Thr375=
ENST00000564138.6:c.1125G>A MANE Select	ENSP00000482457.1:p.Thr375=
NM_002661.4:c.1125G>A	NP_002652.2:p.Thr375=
ENST00000359376.7:c.1125G>A	ENSP00000352336.4:p.Thr375=
ENST00000562605.5:n.319G>A
ENST00000563193.1:c.433G>A
ENST00000563193.2:c.1125G>A	ENSP00000455533.2:p.Thr375=
ENST00000563375.1:c.113G>A
ENST00000563375.2:c.113G>A
ENST00000564138.5:c.1125G>A	ENSP00000482457.1:p.Thr375=
ENST00000567980.5:n.1369G>A
ENST00000570198.1:n.241G>A
ENST00000570198.2:n.243G>A
ENST00000697562.1:c.1125G>A	ENSP00000513338.1:p.Thr375=
ENST00000697563.1:c.*971G>A	ENSP00000513339.1:n.*971G>A
ENST00000697564.1:c.1008G>A	ENSP00000513340.1:p.Thr336=
ENST00000697565.1:n.1065G>A
ENST00000697581.1:c.*1119G>A	ENSP00000513346.1:n.*1119G>A
ENST00000697582.1:c.1125G>A	ENSP00000513347.1:p.Thr375=
ENST00000697583.1:c.924G>A	ENSP00000513349.1:p.Thr308=
ENST00000697584.1:c.924G>A	ENSP00000513350.1:p.Thr308=
ENST00000697585.1:c.924G>A	ENSP00000513351.1:p.Thr308=
ENST00000697586.1:c.924G>A	ENSP00000513352.1:p.Thr308=
ENST00000697587.1:c.924G>A	ENSP00000513353.1:p.Thr308=
XM_011523108.1:c.1239G>A	XP_011521410.1:p.Thr413=