Canonical Allele Identifier: CA8193614

Gene: PLCG2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81895883C>T , CM000678.2:g.81895883C>T	GRCh38
NC_000016.9:g.81929488C>T , CM000678.1:g.81929488C>T	GRCh37
NC_000016.8:g.80486989C>T	NCBI36
NG_032019.2:g.161787C>T , LRG_376:g.161787C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563193.2:c.1149C>T	ENSP00000455533.2:p.Asp383=
ENST00000563375.2:c.137C>T
ENST00000570198.2:n.267C>T
ENST00000697562.1:c.1149C>T	ENSP00000513338.1:p.Asp383=
ENST00000697563.1:c.*995C>T	ENSP00000513339.1:n.*995C>T
ENST00000697564.1:c.1032C>T	ENSP00000513340.1:p.Asp344=
ENST00000697565.1:n.1089C>T
ENST00000697581.1:c.*1143C>T	ENSP00000513346.1:n.*1143C>T
ENST00000697582.1:c.1149C>T	ENSP00000513347.1:p.Asp383=
ENST00000697583.1:c.948C>T	ENSP00000513349.1:p.Asp316=
ENST00000697584.1:c.948C>T	ENSP00000513350.1:p.Asp316=
ENST00000697585.1:c.948C>T	ENSP00000513351.1:p.Asp316=
ENST00000697586.1:c.948C>T	ENSP00000513352.1:p.Asp316=
ENST00000697587.1:c.948C>T	ENSP00000513353.1:p.Asp316=
ENST00000564138.6:c.1149C>T MANE Select	ENSP00000482457.1:p.Asp383=
ENST00000359376.7:c.1149C>T	ENSP00000352336.4:p.Asp383=
ENST00000562605.5:n.343C>T
ENST00000563193.1:c.457C>T
ENST00000563375.1:c.137C>T
ENST00000564138.5:c.1149C>T	ENSP00000482457.1:p.Asp383=
ENST00000567980.5:n.1393C>T
ENST00000570198.1:n.265C>T
NM_002661.4:c.1149C>T	NP_002652.2:p.Asp383=
XM_011523108.1:c.1263C>T	XP_011521410.1:p.Asp421=
NM_002661.5:c.1149C>T MANE Select	NP_002652.2:p.Asp383=