Canonical Allele Identifier: CA396901943
Community Standard Title: NM_002661.5(PLCG2):c.2122G>C (p.Ala708Pro)
Gene: PLCG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81919551G>C , CM000678.2:g.81919551G>C GRCh38
NC_000016.9:g.81953156G>C , CM000678.1:g.81953156G>C GRCh37
NC_000016.8:g.80510657G>C NCBI36
NG_032019.2:g.185455G>C , LRG_376:g.185455G>C

Transcript Alleles

HGVS Amino-acid Change
NM_002661.5:c.2122G>C MANE Select NP_002652.2:p.Ala708Pro
ENST00000564138.6:c.2122G>C MANE Select ENSP00000482457.1:p.Ala708Pro
NM_002661.4:c.2122G>C NP_002652.2:p.Ala708Pro
ENST00000359376.7:c.2122G>C ENSP00000352336.4:p.Ala708Pro
ENST00000564138.5:c.2122G>C ENSP00000482457.1:p.Ala708Pro
ENST00000567980.5:n.2366G>C
ENST00000570198.2:n.1240G>C
ENST00000697562.1:c.*982G>C ENSP00000513338.1:n.*982G>C
ENST00000697563.1:c.*1968G>C ENSP00000513339.1:n.*1968G>C
ENST00000697564.1:c.2005G>C ENSP00000513340.1:p.Ala669Pro
ENST00000697581.1:c.*2116G>C ENSP00000513346.1:n.*2116G>C
ENST00000697582.1:c.2122G>C ENSP00000513347.1:p.Ala708Pro
ENST00000697583.1:c.1921G>C ENSP00000513349.1:p.Ala641Pro
ENST00000697584.1:c.1921G>C ENSP00000513350.1:p.Ala641Pro
ENST00000697585.1:c.1921G>C ENSP00000513351.1:p.Ala641Pro
ENST00000697586.1:c.1921G>C ENSP00000513352.1:p.Ala641Pro
ENST00000697587.1:c.1921G>C ENSP00000513353.1:p.Ala641Pro
XM_011523108.1:c.2236G>C XP_011521410.1:p.Ala746Pro