Canonical Allele Identifier: CA8193813

Gene: PLCG2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81907750G>C , CM000678.2:g.81907750G>C	GRCh38
NC_000016.9:g.81941355G>C , CM000678.1:g.81941355G>C	GRCh37
NC_000016.8:g.80498856G>C	NCBI36
NG_032019.2:g.173654G>C , LRG_376:g.173654G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002661.5:c.1533G>C MANE Select	NP_002652.2:p.Gln511His
ENST00000564138.6:c.1533G>C MANE Select	ENSP00000482457.1:p.Gln511His
NM_002661.4:c.1533G>C	NP_002652.2:p.Gln511His
ENST00000359376.7:c.1533G>C	ENSP00000352336.4:p.Gln511His
ENST00000564138.5:c.1533G>C	ENSP00000482457.1:p.Gln511His
ENST00000567980.5:n.1777G>C
ENST00000570198.2:n.651G>C
ENST00000697562.1:c.*393G>C	ENSP00000513338.1:n.*393G>C
ENST00000697563.1:c.*1379G>C	ENSP00000513339.1:n.*1379G>C
ENST00000697564.1:c.1416G>C	ENSP00000513340.1:p.Gln472His
ENST00000697581.1:c.*1527G>C	ENSP00000513346.1:n.*1527G>C
ENST00000697582.1:c.1533G>C	ENSP00000513347.1:p.Gln511His
ENST00000697583.1:c.1332G>C	ENSP00000513349.1:p.Gln444His
ENST00000697584.1:c.1332G>C	ENSP00000513350.1:p.Gln444His
ENST00000697585.1:c.1332G>C	ENSP00000513351.1:p.Gln444His
ENST00000697586.1:c.1332G>C	ENSP00000513352.1:p.Gln444His
ENST00000697587.1:c.1332G>C	ENSP00000513353.1:p.Gln444His
XM_011523108.1:c.1647G>C	XP_011521410.1:p.Gln549His