Canonical Allele Identifier: CA8193021
Community Standard Title: NM_002661.5(PLCG2):c.88G>T (p.Val30Leu)
Gene: PLCG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81786077G>T , CM000678.2:g.81786077G>T GRCh38
NC_000016.9:g.81819682G>T , CM000678.1:g.81819682G>T GRCh37
NC_000016.8:g.80377183G>T NCBI36
NG_032019.2:g.51981G>T , LRG_376:g.51981G>T

Transcript Alleles

HGVS Amino-acid Change
NM_002661.5:c.88G>T MANE Select NP_002652.2:p.Val30Leu
ENST00000564138.6:c.88G>T MANE Select ENSP00000482457.1:p.Val30Leu
NM_002661.4:c.88G>T NP_002652.2:p.Val30Leu
ENST00000359376.7:c.88G>T ENSP00000352336.4:p.Val30Leu
ENST00000563193.2:c.88G>T ENSP00000455533.2:p.Val30Leu
ENST00000564138.5:c.88G>T ENSP00000482457.1:p.Val30Leu
ENST00000565054.5:c.88G>T ENSP00000455956.1:p.Val30Leu
ENST00000567980.5:n.332G>T
ENST00000569929.5:n.218G>T
ENST00000697561.1:c.88G>T ENSP00000513337.1:p.Val30Leu
ENST00000697562.1:c.88G>T ENSP00000513338.1:p.Val30Leu
ENST00000697563.1:c.88G>T ENSP00000513339.1:p.Val30Leu
ENST00000697564.1:c.88G>T ENSP00000513340.1:p.Val30Leu
ENST00000697565.1:n.28G>T
ENST00000697581.1:c.88G>T ENSP00000513346.1:p.Val30Leu
ENST00000697582.1:c.88G>T ENSP00000513347.1:p.Val30Leu