Canonical Allele Identifier: CA8194290

Gene: PLCG2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81927150C>T , CM000678.2:g.81927150C>T	GRCh38
NC_000016.9:g.81960755C>T , CM000678.1:g.81960755C>T	GRCh37
NC_000016.8:g.80518256C>T	NCBI36
NG_032019.2:g.193054C>T , LRG_376:g.193054C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002661.5:c.2486C>T MANE Select	NP_002652.2:p.Thr829Ile
ENST00000564138.6:c.2486C>T MANE Select	ENSP00000482457.1:p.Thr829Ile
NM_002661.4:c.2486C>T	NP_002652.2:p.Thr829Ile
ENST00000359376.7:c.2486C>T	ENSP00000352336.4:p.Thr829Ile
ENST00000564138.5:c.2486C>T	ENSP00000482457.1:p.Thr829Ile
ENST00000570196.1:n.249C>T
ENST00000570198.2:n.1604C>T
ENST00000697562.1:c.*1346C>T	ENSP00000513338.1:n.*1346C>T
ENST00000697563.1:c.*2332C>T	ENSP00000513339.1:n.*2332C>T
ENST00000697564.1:c.2369C>T	ENSP00000513340.1:p.Thr790Ile
ENST00000697581.1:c.*2480C>T	ENSP00000513346.1:n.*2480C>T
ENST00000697582.1:c.2486C>T	ENSP00000513347.1:p.Thr829Ile
ENST00000697583.1:c.2285C>T	ENSP00000513349.1:p.Thr762Ile
ENST00000697584.1:c.2285C>T	ENSP00000513350.1:p.Thr762Ile
ENST00000697585.1:c.2285C>T	ENSP00000513351.1:p.Thr762Ile
ENST00000697586.1:c.2285C>T	ENSP00000513352.1:p.Thr762Ile
ENST00000697587.1:c.2285C>T	ENSP00000513353.1:p.Thr762Ile
XM_011523108.1:c.2600C>T	XP_011521410.1:p.Thr867Ile