Canonical Allele Identifier: CA8193552
Community Standard Title: NM_002661.5(PLCG2):c.1014C>T (p.Ser338=)
Gene: PLCG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81893736C>T , CM000678.2:g.81893736C>T GRCh38
NC_000016.9:g.81927341C>T , CM000678.1:g.81927341C>T GRCh37
NC_000016.8:g.80484842C>T NCBI36
NG_032019.2:g.159640C>T , LRG_376:g.159640C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002661.5:c.1014C>T MANE Select NP_002652.2:p.Ser338=
ENST00000564138.6:c.1014C>T MANE Select ENSP00000482457.1:p.Ser338=
NM_002661.4:c.1014C>T NP_002652.2:p.Ser338=
ENST00000359376.7:c.1014C>T ENSP00000352336.4:p.Ser338=
ENST00000562605.5:n.208C>T
ENST00000563193.1:c.322C>T
ENST00000563193.2:c.1014C>T ENSP00000455533.2:p.Ser338=
ENST00000563375.1:c.61-2071C>T
ENST00000563375.2:c.61-2071C>T
ENST00000564138.5:c.1014C>T ENSP00000482457.1:p.Ser338=
ENST00000567980.5:n.1258C>T
ENST00000697561.1:c.*443C>T ENSP00000513337.1:n.*443C>T
ENST00000697562.1:c.1014C>T ENSP00000513338.1:p.Ser338=
ENST00000697563.1:c.*860C>T ENSP00000513339.1:n.*860C>T
ENST00000697564.1:c.897C>T ENSP00000513340.1:p.Ser299=
ENST00000697565.1:n.954C>T
ENST00000697581.1:c.*1008C>T ENSP00000513346.1:n.*1008C>T
ENST00000697582.1:c.1014C>T ENSP00000513347.1:p.Ser338=
ENST00000697583.1:c.813C>T ENSP00000513349.1:p.Ser271=
ENST00000697584.1:c.813C>T ENSP00000513350.1:p.Ser271=
ENST00000697585.1:c.813C>T ENSP00000513351.1:p.Ser271=
ENST00000697586.1:c.813C>T ENSP00000513352.1:p.Ser271=
ENST00000697587.1:c.813C>T ENSP00000513353.1:p.Ser271=
XM_011523108.1:c.1128C>T XP_011521410.1:p.Ser376=