Canonical Allele Identifier: CA396897715
Gene: PLCG2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000563193.2:c.800A>T ENSP00000455533.2:p.Glu267Val
ENST00000697561.1:c.*229A>T ENSP00000513337.1:n.*229A>T
ENST00000697562.1:c.800A>T ENSP00000513338.1:p.Glu267Val
ENST00000697563.1:c.*646A>T ENSP00000513339.1:n.*646A>T
ENST00000697564.1:c.683A>T ENSP00000513340.1:p.Glu228Val
ENST00000697565.1:n.740A>T
ENST00000697581.1:c.*794A>T ENSP00000513346.1:n.*794A>T
ENST00000697582.1:c.800A>T ENSP00000513347.1:p.Glu267Val
ENST00000697583.1:c.599A>T ENSP00000513349.1:p.Glu200Val
ENST00000697584.1:c.599A>T ENSP00000513350.1:p.Glu200Val
ENST00000697585.1:c.599A>T ENSP00000513351.1:p.Glu200Val
ENST00000697586.1:c.599A>T ENSP00000513352.1:p.Glu200Val
ENST00000697587.1:c.599A>T ENSP00000513353.1:p.Glu200Val
ENST00000564138.6:c.800A>T MANE Select ENSP00000482457.1:p.Glu267Val
ENST00000359376.7:c.800A>T ENSP00000352336.4:p.Glu267Val
ENST00000563193.1:c.108A>T
ENST00000564138.5:c.800A>T ENSP00000482457.1:p.Glu267Val
ENST00000567980.5:n.1044A>T
NM_002661.4:c.800A>T NP_002652.2:p.Glu267Val
XM_011523108.1:c.914A>T XP_011521410.1:p.Glu305Val
NM_002661.5:c.800A>T MANE Select NP_002652.2:p.Glu267Val