Canonical Allele Identifier: CA285188869
Community Standard Title: NM_002661.5(PLCG2):c.577C>G (p.His193Asp)
Gene: PLCG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81870864C>G , CM000678.2:g.81870864C>G GRCh38
NC_000016.9:g.81904469C>G , CM000678.1:g.81904469C>G GRCh37
NC_000016.8:g.80461970C>G NCBI36
NG_032019.2:g.136768C>G , LRG_376:g.136768C>G

Transcript Alleles

HGVS Amino-acid Change
NM_002661.5:c.577C>G MANE Select NP_002652.2:p.His193Asp
ENST00000564138.6:c.577C>G MANE Select ENSP00000482457.1:p.His193Asp
NM_002661.4:c.577C>G NP_002652.2:p.His193Asp
ENST00000359376.7:c.577C>G ENSP00000352336.4:p.His193Asp
ENST00000563193.2:c.577C>G ENSP00000455533.2:p.His193Asp
ENST00000564138.5:c.577C>G ENSP00000482457.1:p.His193Asp
ENST00000567980.5:n.821C>G
ENST00000569929.5:n.613C>G
ENST00000697561.1:c.*6C>G ENSP00000513337.1:n.*6C>G
ENST00000697562.1:c.577C>G ENSP00000513338.1:p.His193Asp
ENST00000697563.1:c.*138C>G ENSP00000513339.1:n.*138C>G
ENST00000697564.1:c.577C>G ENSP00000513340.1:p.His193Asp
ENST00000697565.1:n.517C>G
ENST00000697581.1:c.*571C>G ENSP00000513346.1:n.*571C>G
ENST00000697582.1:c.577C>G ENSP00000513347.1:p.His193Asp
ENST00000697583.1:c.376C>G ENSP00000513349.1:p.His126Asp
ENST00000697584.1:c.376C>G ENSP00000513350.1:p.His126Asp
ENST00000697585.1:c.376C>G ENSP00000513351.1:p.His126Asp
ENST00000697586.1:c.376C>G ENSP00000513352.1:p.His126Asp
ENST00000697587.1:c.376C>G ENSP00000513353.1:p.His126Asp
XM_011523108.1:c.691C>G XP_011521410.1:p.His231Asp