Canonical Allele Identifier: CA8193121

Gene: PLCG2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81854563G>A , CM000678.2:g.81854563G>A	GRCh38
NC_000016.9:g.81888168G>A , CM000678.1:g.81888168G>A	GRCh37
NC_000016.8:g.80445669G>A	NCBI36
NG_032019.2:g.120467G>A , LRG_376:g.120467G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002661.5:c.313G>A MANE Select	NP_002652.2:p.Val105Ile
ENST00000564138.6:c.313G>A MANE Select	ENSP00000482457.1:p.Val105Ile
NM_002661.4:c.313G>A	NP_002652.2:p.Val105Ile
ENST00000359376.7:c.313G>A	ENSP00000352336.4:p.Val105Ile
ENST00000563193.2:c.313G>A	ENSP00000455533.2:p.Val105Ile
ENST00000564138.5:c.313G>A	ENSP00000482457.1:p.Val105Ile
ENST00000565054.5:c.313G>A	ENSP00000455956.1:p.Val105Ile
ENST00000565400.5:n.637G>A
ENST00000567980.5:n.557G>A
ENST00000569523.1:n.345G>A
ENST00000569929.5:n.443G>A
ENST00000697561.1:c.313G>A	ENSP00000513337.1:p.Val105Ile
ENST00000697562.1:c.313G>A	ENSP00000513338.1:p.Val105Ile
ENST00000697563.1:c.313G>A	ENSP00000513339.1:p.Val105Ile
ENST00000697564.1:c.313G>A	ENSP00000513340.1:p.Val105Ile
ENST00000697565.1:n.253G>A
ENST00000697581.1:c.*307G>A	ENSP00000513346.1:n.*307G>A
ENST00000697582.1:c.313G>A	ENSP00000513347.1:p.Val105Ile
ENST00000697583.1:c.112G>A	ENSP00000513349.1:p.Val38Ile
ENST00000697584.1:c.112G>A	ENSP00000513350.1:p.Val38Ile
ENST00000697585.1:c.112G>A	ENSP00000513351.1:p.Val38Ile
ENST00000697586.1:c.112G>A	ENSP00000513352.1:p.Val38Ile
ENST00000697587.1:c.112G>A	ENSP00000513353.1:p.Val38Ile
XM_011523108.1:c.427G>A	XP_011521410.1:p.Val143Ile