Canonical Allele Identifier: CA8194296

Gene: PLCG2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81927167C>A , CM000678.2:g.81927167C>A	GRCh38
NC_000016.9:g.81960772C>A , CM000678.1:g.81960772C>A	GRCh37
NC_000016.8:g.80518273C>A	NCBI36
NG_032019.2:g.193071C>A , LRG_376:g.193071C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002661.5:c.2503C>A MANE Select	NP_002652.2:p.Leu835Ile
ENST00000564138.6:c.2503C>A MANE Select	ENSP00000482457.1:p.Leu835Ile
NM_002661.4:c.2503C>A	NP_002652.2:p.Leu835Ile
ENST00000359376.7:c.2503C>A	ENSP00000352336.4:p.Leu835Ile
ENST00000564138.5:c.2503C>A	ENSP00000482457.1:p.Leu835Ile
ENST00000570196.1:n.266C>A
ENST00000570198.2:n.1621C>A
ENST00000697562.1:c.*1363C>A	ENSP00000513338.1:n.*1363C>A
ENST00000697563.1:c.*2349C>A	ENSP00000513339.1:n.*2349C>A
ENST00000697564.1:c.2386C>A	ENSP00000513340.1:p.Leu796Ile
ENST00000697581.1:c.*2497C>A	ENSP00000513346.1:n.*2497C>A
ENST00000697582.1:c.2503C>A	ENSP00000513347.1:p.Leu835Ile
ENST00000697583.1:c.2302C>A	ENSP00000513349.1:p.Leu768Ile
ENST00000697584.1:c.2302C>A	ENSP00000513350.1:p.Leu768Ile
ENST00000697585.1:c.2302C>A	ENSP00000513351.1:p.Leu768Ile
ENST00000697586.1:c.2302C>A	ENSP00000513352.1:p.Leu768Ile
ENST00000697587.1:c.2302C>A	ENSP00000513353.1:p.Leu768Ile
XM_011523108.1:c.2617C>A	XP_011521410.1:p.Leu873Ile