Canonical Allele Identifier: CA8193743

Gene: PLCG2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81905423A>G , CM000678.2:g.81905423A>G	GRCh38
NC_000016.9:g.81939028A>G , CM000678.1:g.81939028A>G	GRCh37
NC_000016.8:g.80496529A>G	NCBI36
NG_032019.2:g.171327A>G , LRG_376:g.171327A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563375.2:c.202A>G
ENST00000570198.2:n.501A>G
ENST00000697562.1:c.*243A>G	ENSP00000513338.1:n.*243A>G
ENST00000697563.1:c.*1229A>G	ENSP00000513339.1:n.*1229A>G
ENST00000697564.1:c.1266A>G	ENSP00000513340.1:p.Arg422=
ENST00000697565.1:n.1323A>G
ENST00000697581.1:c.*1377A>G	ENSP00000513346.1:n.*1377A>G
ENST00000697582.1:c.1383A>G	ENSP00000513347.1:p.Arg461=
ENST00000697583.1:c.1182A>G	ENSP00000513349.1:p.Arg394=
ENST00000697584.1:c.1182A>G	ENSP00000513350.1:p.Arg394=
ENST00000697585.1:c.1182A>G	ENSP00000513351.1:p.Arg394=
ENST00000697586.1:c.1182A>G	ENSP00000513352.1:p.Arg394=
ENST00000697587.1:c.1182A>G	ENSP00000513353.1:p.Arg394=
ENST00000564138.6:c.1383A>G MANE Select	ENSP00000482457.1:p.Arg461=
ENST00000359376.7:c.1383A>G	ENSP00000352336.4:p.Arg461=
ENST00000563375.1:c.202A>G
ENST00000564138.5:c.1383A>G	ENSP00000482457.1:p.Arg461=
ENST00000567980.5:n.1627A>G
ENST00000570198.1:n.499A>G
NM_002661.4:c.1383A>G	NP_002652.2:p.Arg461=
XM_011523108.1:c.1497A>G	XP_011521410.1:p.Arg499=
NM_002661.5:c.1383A>G MANE Select	NP_002652.2:p.Arg461=