Canonical Allele Identifier: CA396897713
Gene: PLCG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81889206A>C , CM000678.2:g.81889206A>C GRCh38
NC_000016.9:g.81922811A>C , CM000678.1:g.81922811A>C GRCh37
NC_000016.8:g.80480312A>C NCBI36
NG_032019.2:g.155110A>C , LRG_376:g.155110A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000563193.2:c.800A>C ENSP00000455533.2:p.Glu267Ala
ENST00000697561.1:c.*229A>C ENSP00000513337.1:n.*229A>C
ENST00000697562.1:c.800A>C ENSP00000513338.1:p.Glu267Ala
ENST00000697563.1:c.*646A>C ENSP00000513339.1:n.*646A>C
ENST00000697564.1:c.683A>C ENSP00000513340.1:p.Glu228Ala
ENST00000697565.1:n.740A>C
ENST00000697581.1:c.*794A>C ENSP00000513346.1:n.*794A>C
ENST00000697582.1:c.800A>C ENSP00000513347.1:p.Glu267Ala
ENST00000697583.1:c.599A>C ENSP00000513349.1:p.Glu200Ala
ENST00000697584.1:c.599A>C ENSP00000513350.1:p.Glu200Ala
ENST00000697585.1:c.599A>C ENSP00000513351.1:p.Glu200Ala
ENST00000697586.1:c.599A>C ENSP00000513352.1:p.Glu200Ala
ENST00000697587.1:c.599A>C ENSP00000513353.1:p.Glu200Ala
ENST00000564138.6:c.800A>C MANE Select ENSP00000482457.1:p.Glu267Ala
ENST00000359376.7:c.800A>C ENSP00000352336.4:p.Glu267Ala
ENST00000563193.1:c.108A>C
ENST00000564138.5:c.800A>C ENSP00000482457.1:p.Glu267Ala
ENST00000567980.5:n.1044A>C
NM_002661.4:c.800A>C NP_002652.2:p.Glu267Ala
XM_011523108.1:c.914A>C XP_011521410.1:p.Glu305Ala
NM_002661.5:c.800A>C MANE Select NP_002652.2:p.Glu267Ala