Canonical Allele Identifier: CA8193166

Gene: PLCG2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81858323C>T , CM000678.2:g.81858323C>T	GRCh38
NC_000016.9:g.81891928C>T , CM000678.1:g.81891928C>T	GRCh37
NC_000016.8:g.80449429C>T	NCBI36
NG_032019.2:g.124227C>T , LRG_376:g.124227C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002661.5:c.398C>T MANE Select	NP_002652.2:p.Ala133Val
ENST00000564138.6:c.398C>T MANE Select	ENSP00000482457.1:p.Ala133Val
NM_002661.4:c.398C>T	NP_002652.2:p.Ala133Val
ENST00000359376.7:c.398C>T	ENSP00000352336.4:p.Ala133Val
ENST00000563193.2:c.398C>T	ENSP00000455533.2:p.Ala133Val
ENST00000564138.5:c.398C>T	ENSP00000482457.1:p.Ala133Val
ENST00000565020.1:n.379C>T
ENST00000565054.5:c.398C>T	ENSP00000455956.1:p.Ala133Val
ENST00000565400.5:n.722C>T
ENST00000567980.5:n.642C>T
ENST00000569523.1:n.430C>T
ENST00000569929.5:n.468-793C>T
ENST00000697561.1:c.398C>T	ENSP00000513337.1:p.Ala133Val
ENST00000697562.1:c.398C>T	ENSP00000513338.1:p.Ala133Val
ENST00000697563.1:c.338-793C>T	ENSP00000513339.1:n.338-793C>T
ENST00000697564.1:c.398C>T	ENSP00000513340.1:p.Ala133Val
ENST00000697565.1:n.338C>T
ENST00000697581.1:c.*392C>T	ENSP00000513346.1:n.*392C>T
ENST00000697582.1:c.398C>T	ENSP00000513347.1:p.Ala133Val
ENST00000697583.1:c.197C>T	ENSP00000513349.1:p.Ala66Val
ENST00000697584.1:c.197C>T	ENSP00000513350.1:p.Ala66Val
ENST00000697585.1:c.197C>T	ENSP00000513351.1:p.Ala66Val
ENST00000697586.1:c.197C>T	ENSP00000513352.1:p.Ala66Val
ENST00000697587.1:c.197C>T	ENSP00000513353.1:p.Ala66Val
XM_011523108.1:c.512C>T	XP_011521410.1:p.Ala171Val