Canonical Allele Identifier: CA8193175

Gene: PLCG2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81858346A>G , CM000678.2:g.81858346A>G	GRCh38
NC_000016.9:g.81891951A>G , CM000678.1:g.81891951A>G	GRCh37
NC_000016.8:g.80449452A>G	NCBI36
NG_032019.2:g.124250A>G , LRG_376:g.124250A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002661.5:c.421A>G MANE Select	NP_002652.2:p.Ile141Val
ENST00000564138.6:c.421A>G MANE Select	ENSP00000482457.1:p.Ile141Val
NM_002661.4:c.421A>G	NP_002652.2:p.Ile141Val
ENST00000359376.7:c.421A>G	ENSP00000352336.4:p.Ile141Val
ENST00000563193.2:c.421A>G	ENSP00000455533.2:p.Ile141Val
ENST00000564138.5:c.421A>G	ENSP00000482457.1:p.Ile141Val
ENST00000565020.1:n.402A>G
ENST00000565054.5:c.421A>G	ENSP00000455956.1:p.Ile141Val
ENST00000565400.5:n.745A>G
ENST00000567980.5:n.665A>G
ENST00000569523.1:n.453A>G
ENST00000569929.5:n.468-770A>G
ENST00000697561.1:c.421A>G	ENSP00000513337.1:p.Ile141Val
ENST00000697562.1:c.421A>G	ENSP00000513338.1:p.Ile141Val
ENST00000697563.1:c.338-770A>G	ENSP00000513339.1:n.338-770A>G
ENST00000697564.1:c.421A>G	ENSP00000513340.1:p.Ile141Val
ENST00000697565.1:n.361A>G
ENST00000697581.1:c.*415A>G	ENSP00000513346.1:n.*415A>G
ENST00000697582.1:c.421A>G	ENSP00000513347.1:p.Ile141Val
ENST00000697583.1:c.220A>G	ENSP00000513349.1:p.Ile74Val
ENST00000697584.1:c.220A>G	ENSP00000513350.1:p.Ile74Val
ENST00000697585.1:c.220A>G	ENSP00000513351.1:p.Ile74Val
ENST00000697586.1:c.220A>G	ENSP00000513352.1:p.Ile74Val
ENST00000697587.1:c.220A>G	ENSP00000513353.1:p.Ile74Val
XM_011523108.1:c.535A>G	XP_011521410.1:p.Ile179Val