Canonical Allele Identifier: CA396897685
Gene: PLCG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81889191T>G , CM000678.2:g.81889191T>G GRCh38
NC_000016.9:g.81922796T>G , CM000678.1:g.81922796T>G GRCh37
NC_000016.8:g.80480297T>G NCBI36
NG_032019.2:g.155095T>G , LRG_376:g.155095T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000563193.2:c.785T>G ENSP00000455533.2:p.Leu262Arg
ENST00000697561.1:c.*214T>G ENSP00000513337.1:n.*214T>G
ENST00000697562.1:c.785T>G ENSP00000513338.1:p.Leu262Arg
ENST00000697563.1:c.*631T>G ENSP00000513339.1:n.*631T>G
ENST00000697564.1:c.668T>G ENSP00000513340.1:p.Leu223Arg
ENST00000697565.1:n.725T>G
ENST00000697581.1:c.*779T>G ENSP00000513346.1:n.*779T>G
ENST00000697582.1:c.785T>G ENSP00000513347.1:p.Leu262Arg
ENST00000697583.1:c.584T>G ENSP00000513349.1:p.Leu195Arg
ENST00000697584.1:c.584T>G ENSP00000513350.1:p.Leu195Arg
ENST00000697585.1:c.584T>G ENSP00000513351.1:p.Leu195Arg
ENST00000697586.1:c.584T>G ENSP00000513352.1:p.Leu195Arg
ENST00000697587.1:c.584T>G ENSP00000513353.1:p.Leu195Arg
ENST00000564138.6:c.785T>G MANE Select ENSP00000482457.1:p.Leu262Arg
ENST00000359376.7:c.785T>G ENSP00000352336.4:p.Leu262Arg
ENST00000563193.1:c.93T>G
ENST00000564138.5:c.785T>G ENSP00000482457.1:p.Leu262Arg
ENST00000567980.5:n.1029T>G
NM_002661.4:c.785T>G NP_002652.2:p.Leu262Arg
XM_011523108.1:c.899T>G XP_011521410.1:p.Leu300Arg
NM_002661.5:c.785T>G MANE Select NP_002652.2:p.Leu262Arg