Canonical Allele Identifier: CA396897828
Gene: PLCG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81889259T>A , CM000678.2:g.81889259T>A GRCh38
NC_000016.9:g.81922864T>A , CM000678.1:g.81922864T>A GRCh37
NC_000016.8:g.80480365T>A NCBI36
NG_032019.2:g.155163T>A , LRG_376:g.155163T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000563193.2:c.853T>A ENSP00000455533.2:p.Leu285Met
ENST00000697561.1:c.*282T>A ENSP00000513337.1:n.*282T>A
ENST00000697562.1:c.853T>A ENSP00000513338.1:p.Leu285Met
ENST00000697563.1:c.*699T>A ENSP00000513339.1:n.*699T>A
ENST00000697564.1:c.736T>A ENSP00000513340.1:p.Leu246Met
ENST00000697565.1:n.793T>A
ENST00000697581.1:c.*847T>A ENSP00000513346.1:n.*847T>A
ENST00000697582.1:c.853T>A ENSP00000513347.1:p.Leu285Met
ENST00000697583.1:c.652T>A ENSP00000513349.1:p.Leu218Met
ENST00000697584.1:c.652T>A ENSP00000513350.1:p.Leu218Met
ENST00000697585.1:c.652T>A ENSP00000513351.1:p.Leu218Met
ENST00000697586.1:c.652T>A ENSP00000513352.1:p.Leu218Met
ENST00000697587.1:c.652T>A ENSP00000513353.1:p.Leu218Met
ENST00000564138.6:c.853T>A MANE Select ENSP00000482457.1:p.Leu285Met
ENST00000359376.7:c.853T>A ENSP00000352336.4:p.Leu285Met
ENST00000563193.1:c.161T>A
ENST00000564138.5:c.853T>A ENSP00000482457.1:p.Leu285Met
ENST00000567980.5:n.1097T>A
NM_002661.4:c.853T>A NP_002652.2:p.Leu285Met
XM_011523108.1:c.967T>A XP_011521410.1:p.Leu323Met
NM_002661.5:c.853T>A MANE Select NP_002652.2:p.Leu285Met