Canonical Allele Identifier: CA8194802

Gene: PLCG2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81956806C>T , CM000678.2:g.81956806C>T	GRCh38
NC_000016.9:g.81990411C>T , CM000678.1:g.81990411C>T	GRCh37
NC_000016.8:g.80547912C>T	NCBI36
NG_032019.2:g.222710C>T , LRG_376:g.222710C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002661.5:c.3682C>T MANE Select	NP_002652.2:p.Arg1228Trp
ENST00000564138.6:c.3682C>T MANE Select	ENSP00000482457.1:p.Arg1228Trp
NM_002661.4:c.3682C>T	NP_002652.2:p.Arg1228Trp
ENST00000359376.7:c.3682C>T	ENSP00000352336.4:p.Arg1228Trp
ENST00000563269.2:n.1857C>T
ENST00000564138.5:c.3682C>T	ENSP00000482457.1:p.Arg1228Trp
ENST00000570198.2:n.2800C>T
ENST00000697562.1:c.*2542C>T	ENSP00000513338.1:n.*2542C>T
ENST00000697563.1:c.*3528C>T	ENSP00000513339.1:n.*3528C>T
ENST00000697564.1:c.3565C>T	ENSP00000513340.1:p.Arg1189Trp
ENST00000697581.1:c.*3676C>T	ENSP00000513346.1:n.*3676C>T
ENST00000697582.1:c.*964C>T	ENSP00000513347.1:n.*964C>T
ENST00000697583.1:c.3481C>T	ENSP00000513349.1:p.Arg1161Trp
ENST00000697584.1:c.3481C>T	ENSP00000513350.1:p.Arg1161Trp
ENST00000697585.1:c.3481C>T	ENSP00000513351.1:p.Arg1161Trp
ENST00000697586.1:c.3481C>T	ENSP00000513352.1:p.Arg1161Trp
ENST00000697587.1:c.3481C>T	ENSP00000513353.1:p.Arg1161Trp
XM_011523108.1:c.3796C>T	XP_011521410.1:p.Arg1266Trp