Canonical Allele Identifier: CA8194044
Community Standard Title: NM_002661.5(PLCG2):c.2036C>G (p.Ser679Cys)
Gene: PLCG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81912698C>G , CM000678.2:g.81912698C>G GRCh38
NC_000016.9:g.81946303C>G , CM000678.1:g.81946303C>G GRCh37
NC_000016.8:g.80503804C>G NCBI36
NG_032019.2:g.178602C>G , LRG_376:g.178602C>G

Transcript Alleles

HGVS Amino-acid Change
NM_002661.5:c.2036C>G MANE Select NP_002652.2:p.Ser679Cys
ENST00000564138.6:c.2036C>G MANE Select ENSP00000482457.1:p.Ser679Cys
NM_002661.4:c.2036C>G NP_002652.2:p.Ser679Cys
ENST00000359376.7:c.2036C>G ENSP00000352336.4:p.Ser679Cys
ENST00000564138.5:c.2036C>G ENSP00000482457.1:p.Ser679Cys
ENST00000567980.5:n.2280C>G
ENST00000570198.2:n.1154C>G
ENST00000697562.1:c.*896C>G ENSP00000513338.1:n.*896C>G
ENST00000697563.1:c.*1882C>G ENSP00000513339.1:n.*1882C>G
ENST00000697564.1:c.1919C>G ENSP00000513340.1:p.Ser640Cys
ENST00000697581.1:c.*2030C>G ENSP00000513346.1:n.*2030C>G
ENST00000697582.1:c.2036C>G ENSP00000513347.1:p.Ser679Cys
ENST00000697583.1:c.1835C>G ENSP00000513349.1:p.Ser612Cys
ENST00000697584.1:c.1835C>G ENSP00000513350.1:p.Ser612Cys
ENST00000697585.1:c.1835C>G ENSP00000513351.1:p.Ser612Cys
ENST00000697586.1:c.1835C>G ENSP00000513352.1:p.Ser612Cys
ENST00000697587.1:c.1835C>G ENSP00000513353.1:p.Ser612Cys
XM_011523108.1:c.2150C>G XP_011521410.1:p.Ser717Cys