Canonical Allele Identifier: CA8194693
Community Standard Title: NM_002661.5(PLCG2):c.3343C>T (p.Pro1115Ser)
Gene: PLCG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81939921C>T , CM000678.2:g.81939921C>T GRCh38
NC_000016.9:g.81973526C>T , CM000678.1:g.81973526C>T GRCh37
NC_000016.8:g.80531027C>T NCBI36
NG_032019.2:g.205825C>T , LRG_376:g.205825C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002661.5:c.3343C>T MANE Select NP_002652.2:p.Pro1115Ser
ENST00000564138.6:c.3343C>T MANE Select ENSP00000482457.1:p.Pro1115Ser
NM_002661.4:c.3343C>T NP_002652.2:p.Pro1115Ser
ENST00000359376.7:c.3343C>T ENSP00000352336.4:p.Pro1115Ser
ENST00000563269.2:n.1518C>T
ENST00000563834.1:n.219C>T
ENST00000564138.5:c.3343C>T ENSP00000482457.1:p.Pro1115Ser
ENST00000567356.1:n.318C>T
ENST00000567373.5:n.702C>T
ENST00000570198.2:n.2461C>T
ENST00000697562.1:c.*2203C>T ENSP00000513338.1:n.*2203C>T
ENST00000697563.1:c.*3189C>T ENSP00000513339.1:n.*3189C>T
ENST00000697564.1:c.3226C>T ENSP00000513340.1:p.Pro1076Ser
ENST00000697581.1:c.*3337C>T ENSP00000513346.1:n.*3337C>T
ENST00000697582.1:c.*625C>T ENSP00000513347.1:n.*625C>T
ENST00000697583.1:c.3142C>T ENSP00000513349.1:p.Pro1048Ser
ENST00000697584.1:c.3142C>T ENSP00000513350.1:p.Pro1048Ser
ENST00000697585.1:c.3142C>T ENSP00000513351.1:p.Pro1048Ser
ENST00000697586.1:c.3142C>T ENSP00000513352.1:p.Pro1048Ser
ENST00000697587.1:c.3142C>T ENSP00000513353.1:p.Pro1048Ser
XM_011523108.1:c.3457C>T XP_011521410.1:p.Pro1153Ser