Canonical Allele Identifier: CA8193683
Community Standard Title: NM_002661.5(PLCG2):c.1292C>T (p.Thr431Met)
Gene: PLCG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81900710C>T , CM000678.2:g.81900710C>T GRCh38
NC_000016.9:g.81934315C>T , CM000678.1:g.81934315C>T GRCh37
NC_000016.8:g.80491816C>T NCBI36
NG_032019.2:g.166614C>T , LRG_376:g.166614C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002661.5:c.1292C>T MANE Select NP_002652.2:p.Thr431Met
ENST00000564138.6:c.1292C>T MANE Select ENSP00000482457.1:p.Thr431Met
NM_002661.4:c.1292C>T NP_002652.2:p.Thr431Met
ENST00000359376.7:c.1292C>T ENSP00000352336.4:p.Thr431Met
ENST00000562605.5:n.486C>T
ENST00000563375.1:c.182-4693C>T
ENST00000563375.2:c.182-4693C>T
ENST00000564138.5:c.1292C>T ENSP00000482457.1:p.Thr431Met
ENST00000567980.5:n.1536C>T
ENST00000570198.1:n.408C>T
ENST00000570198.2:n.410C>T
ENST00000697562.1:c.*152C>T ENSP00000513338.1:n.*152C>T
ENST00000697563.1:c.*1138C>T ENSP00000513339.1:n.*1138C>T
ENST00000697564.1:c.1175C>T ENSP00000513340.1:p.Thr392Met
ENST00000697565.1:n.1232C>T
ENST00000697581.1:c.*1286C>T ENSP00000513346.1:n.*1286C>T
ENST00000697582.1:c.1292C>T ENSP00000513347.1:p.Thr431Met
ENST00000697583.1:c.1091C>T ENSP00000513349.1:p.Thr364Met
ENST00000697584.1:c.1091C>T ENSP00000513350.1:p.Thr364Met
ENST00000697585.1:c.1091C>T ENSP00000513351.1:p.Thr364Met
ENST00000697586.1:c.1091C>T ENSP00000513352.1:p.Thr364Met
ENST00000697587.1:c.1091C>T ENSP00000513353.1:p.Thr364Met
XM_011523108.1:c.1406C>T XP_011521410.1:p.Thr469Met