Canonical Allele Identifier: CA8194710

Gene: PLCG2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81939998T>C , CM000678.2:g.81939998T>C	GRCh38
NC_000016.9:g.81973603T>C , CM000678.1:g.81973603T>C	GRCh37
NC_000016.8:g.80531104T>C	NCBI36
NG_032019.2:g.205902T>C , LRG_376:g.205902T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002661.5:c.3420T>C MANE Select	NP_002652.2:p.Asp1140=
ENST00000564138.6:c.3420T>C MANE Select	ENSP00000482457.1:p.Asp1140=
NM_002661.4:c.3420T>C	NP_002652.2:p.Asp1140=
ENST00000359376.7:c.3420T>C	ENSP00000352336.4:p.Asp1140=
ENST00000563269.2:n.1595T>C
ENST00000564138.5:c.3420T>C	ENSP00000482457.1:p.Asp1140=
ENST00000567356.1:n.395T>C
ENST00000567373.5:n.779T>C
ENST00000570198.2:n.2538T>C
ENST00000697562.1:c.*2280T>C	ENSP00000513338.1:n.*2280T>C
ENST00000697563.1:c.*3266T>C	ENSP00000513339.1:n.*3266T>C
ENST00000697564.1:c.3303T>C	ENSP00000513340.1:p.Asp1101=
ENST00000697581.1:c.*3414T>C	ENSP00000513346.1:n.*3414T>C
ENST00000697582.1:c.*702T>C	ENSP00000513347.1:n.*702T>C
ENST00000697583.1:c.3219T>C	ENSP00000513349.1:p.Asp1073=
ENST00000697584.1:c.3219T>C	ENSP00000513350.1:p.Asp1073=
ENST00000697585.1:c.3219T>C	ENSP00000513351.1:p.Asp1073=
ENST00000697586.1:c.3219T>C	ENSP00000513352.1:p.Asp1073=
ENST00000697587.1:c.3219T>C	ENSP00000513353.1:p.Asp1073=
XM_011523108.1:c.3534T>C	XP_011521410.1:p.Asp1178=