Canonical Allele Identifier: CA8194810

Gene: PLCG2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81956853G>C , CM000678.2:g.81956853G>C	GRCh38
NC_000016.9:g.81990458G>C , CM000678.1:g.81990458G>C	GRCh37
NC_000016.8:g.80547959G>C	NCBI36
NG_032019.2:g.222757G>C , LRG_376:g.222757G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002661.5:c.3729G>C MANE Select	NP_002652.2:p.Gln1243His
ENST00000564138.6:c.3729G>C MANE Select	ENSP00000482457.1:p.Gln1243His
NM_002661.4:c.3729G>C	NP_002652.2:p.Gln1243His
ENST00000359376.7:c.3728G>C	ENSP00000352336.4:p.Ser1243Thr
ENST00000563269.2:n.1904G>C
ENST00000564138.5:c.3729G>C	ENSP00000482457.1:p.Gln1243His
ENST00000570198.2:n.2847G>C
ENST00000697562.1:c.*2589G>C	ENSP00000513338.1:n.*2589G>C
ENST00000697563.1:c.*3575G>C	ENSP00000513339.1:n.*3575G>C
ENST00000697564.1:c.3612G>C	ENSP00000513340.1:p.Gln1204His
ENST00000697581.1:c.*3723G>C	ENSP00000513346.1:n.*3723G>C
ENST00000697582.1:c.*1011G>C	ENSP00000513347.1:n.*1011G>C
ENST00000697583.1:c.3528G>C	ENSP00000513349.1:p.Gln1176His
ENST00000697584.1:c.3528G>C	ENSP00000513350.1:p.Gln1176His
ENST00000697585.1:c.3528G>C	ENSP00000513351.1:p.Gln1176His
ENST00000697586.1:c.3528G>C	ENSP00000513352.1:p.Gln1176His
ENST00000697587.1:c.3528G>C	ENSP00000513353.1:p.Gln1176His
XM_011523108.1:c.3843G>C	XP_011521410.1:p.Gln1281His