Canonical Allele Identifier: CA396895467
Community Standard Title: NM_002661.5(PLCG2):c.99C>A (p.Phe33Leu)
Gene: PLCG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81786088C>A , CM000678.2:g.81786088C>A GRCh38
NC_000016.9:g.81819693C>A , CM000678.1:g.81819693C>A GRCh37
NC_000016.8:g.80377194C>A NCBI36
NG_032019.2:g.51992C>A , LRG_376:g.51992C>A

Transcript Alleles

HGVS Amino-acid Change
NM_002661.5:c.99C>A MANE Select NP_002652.2:p.Phe33Leu
ENST00000564138.6:c.99C>A MANE Select ENSP00000482457.1:p.Phe33Leu
NM_002661.4:c.99C>A NP_002652.2:p.Phe33Leu
ENST00000359376.7:c.99C>A ENSP00000352336.4:p.Phe33Leu
ENST00000563193.2:c.99C>A ENSP00000455533.2:p.Phe33Leu
ENST00000564138.5:c.99C>A ENSP00000482457.1:p.Phe33Leu
ENST00000565054.5:c.99C>A ENSP00000455956.1:p.Phe33Leu
ENST00000567980.5:n.343C>A
ENST00000569929.5:n.229C>A
ENST00000697561.1:c.99C>A ENSP00000513337.1:p.Phe33Leu
ENST00000697562.1:c.99C>A ENSP00000513338.1:p.Phe33Leu
ENST00000697563.1:c.99C>A ENSP00000513339.1:p.Phe33Leu
ENST00000697564.1:c.99C>A ENSP00000513340.1:p.Phe33Leu
ENST00000697565.1:n.39C>A
ENST00000697581.1:c.99C>A ENSP00000513346.1:p.Phe33Leu
ENST00000697582.1:c.99C>A ENSP00000513347.1:p.Phe33Leu