Canonical Allele Identifier: CA8194347
Community Standard Title: NM_002661.5(PLCG2):c.2580C>T (p.Val860=)
Gene: PLCG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81928623C>T , CM000678.2:g.81928623C>T GRCh38
NC_000016.9:g.81962228C>T , CM000678.1:g.81962228C>T GRCh37
NC_000016.8:g.80519729C>T NCBI36
NG_032019.2:g.194527C>T , LRG_376:g.194527C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002661.5:c.2580C>T MANE Select NP_002652.2:p.Val860=
ENST00000564138.6:c.2580C>T MANE Select ENSP00000482457.1:p.Val860=
NM_002661.4:c.2580C>T NP_002652.2:p.Val860=
ENST00000359376.7:c.2580C>T ENSP00000352336.4:p.Val860=
ENST00000564138.5:c.2580C>T ENSP00000482457.1:p.Val860=
ENST00000570196.1:n.343C>T
ENST00000570198.2:n.1698C>T
ENST00000697562.1:c.*1440C>T ENSP00000513338.1:n.*1440C>T
ENST00000697563.1:c.*2426C>T ENSP00000513339.1:n.*2426C>T
ENST00000697564.1:c.2463C>T ENSP00000513340.1:p.Val821=
ENST00000697581.1:c.*2574C>T ENSP00000513346.1:n.*2574C>T
ENST00000697582.1:c.2580C>T ENSP00000513347.1:p.Val860=
ENST00000697583.1:c.2379C>T ENSP00000513349.1:p.Val793=
ENST00000697584.1:c.2379C>T ENSP00000513350.1:p.Val793=
ENST00000697585.1:c.2379C>T ENSP00000513351.1:p.Val793=
ENST00000697586.1:c.2379C>T ENSP00000513352.1:p.Val793=
ENST00000697587.1:c.2379C>T ENSP00000513353.1:p.Val793=
XM_011523108.1:c.2694C>T XP_011521410.1:p.Val898=