Canonical Allele Identifier: CA8193249

Gene: PLCG2

Linked Data

• ClinVar Variation Id: 432319
• ClinVar RCV Id: RCV000497427 ; RCV001047902 ; RCV002481583
• dbSNP Id: rs753974933
• ExAC: 16:81902841 A / G
• gnomAD v2: 16-81902841-A-G
• gnomAD v3: 16-81869236-A-G
• gnomAD v4: 16-81869236-A-G
• MyVariant Identifiers: chr16:g.81902841A>G (hg19) ; chr16:g.81869236A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81869236A>G , CM000678.2:g.81869236A>G	GRCh38
NC_000016.9:g.81902841A>G , CM000678.1:g.81902841A>G	GRCh37
NC_000016.8:g.80460342A>G	NCBI36
NG_032019.2:g.135140A>G , LRG_376:g.135140A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000563193.2:c.502A>G	ENSP00000455533.2:p.Thr168Ala
ENST00000697561.1:c.502A>G	ENSP00000513337.1:p.Thr168Ala
ENST00000697562.1:c.502A>G	ENSP00000513338.1:p.Thr168Ala
ENST00000697563.1:c.*63A>G	ENSP00000513339.1:n.*63A>G
ENST00000697564.1:c.502A>G	ENSP00000513340.1:p.Thr168Ala
ENST00000697565.1:n.442A>G
ENST00000697581.1:c.*496A>G	ENSP00000513346.1:n.*496A>G
ENST00000697582.1:c.502A>G	ENSP00000513347.1:p.Thr168Ala
ENST00000697583.1:c.301A>G	ENSP00000513349.1:p.Thr101Ala
ENST00000697584.1:c.301A>G	ENSP00000513350.1:p.Thr101Ala
ENST00000697585.1:c.301A>G	ENSP00000513351.1:p.Thr101Ala
ENST00000697586.1:c.301A>G	ENSP00000513352.1:p.Thr101Ala
ENST00000697587.1:c.301A>G	ENSP00000513353.1:p.Thr101Ala
ENST00000564138.6:c.502A>G MANE Select	ENSP00000482457.1:p.Thr168Ala
ENST00000359376.7:c.502A>G	ENSP00000352336.4:p.Thr168Ala
ENST00000564138.5:c.502A>G	ENSP00000482457.1:p.Thr168Ala
ENST00000567980.5:n.746A>G
ENST00000569523.1:n.534A>G
ENST00000569929.5:n.538A>G
NM_002661.4:c.502A>G	NP_002652.2:p.Thr168Ala
XM_011523108.1:c.616A>G	XP_011521410.1:p.Thr206Ala
NM_002661.5:c.502A>G MANE Select	NP_002652.2:p.Thr168Ala