Canonical Allele Identifier: CA8193460

Gene: PLCG2

Linked Data

• ClinVar Variation Id: 403319
• ClinVar RCV Id: RCV000456014 ; RCV000755360
• dbSNP Id: rs1143687
• ExAC: 16:81922813 C / T
• gnomAD v2: 16-81922813-C-T
• gnomAD v3: 16-81889208-C-T
• gnomAD v4: 16-81889208-C-T
• MyVariant Identifiers: chr16:g.81922813C>T (hg19) ; chr16:g.81889208C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81889208C>T , CM000678.2:g.81889208C>T	GRCh38
NC_000016.9:g.81922813C>T , CM000678.1:g.81922813C>T	GRCh37
NC_000016.8:g.80480314C>T	NCBI36
NG_032019.2:g.155112C>T , LRG_376:g.155112C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000563193.2:c.802C>T	ENSP00000455533.2:p.Arg268Trp
ENST00000697561.1:c.*231C>T	ENSP00000513337.1:n.*231C>T
ENST00000697562.1:c.802C>T	ENSP00000513338.1:p.Arg268Trp
ENST00000697563.1:c.*648C>T	ENSP00000513339.1:n.*648C>T
ENST00000697564.1:c.685C>T	ENSP00000513340.1:p.Arg229Trp
ENST00000697565.1:n.742C>T
ENST00000697581.1:c.*796C>T	ENSP00000513346.1:n.*796C>T
ENST00000697582.1:c.802C>T	ENSP00000513347.1:p.Arg268Trp
ENST00000697583.1:c.601C>T	ENSP00000513349.1:p.Arg201Trp
ENST00000697584.1:c.601C>T	ENSP00000513350.1:p.Arg201Trp
ENST00000697585.1:c.601C>T	ENSP00000513351.1:p.Arg201Trp
ENST00000697586.1:c.601C>T	ENSP00000513352.1:p.Arg201Trp
ENST00000697587.1:c.601C>T	ENSP00000513353.1:p.Arg201Trp
ENST00000564138.6:c.802C>T MANE Select	ENSP00000482457.1:p.Arg268Trp
ENST00000359376.7:c.802C>T	ENSP00000352336.4:p.Arg268Trp
ENST00000563193.1:c.110C>T
ENST00000564138.5:c.802C>T	ENSP00000482457.1:p.Arg268Trp
ENST00000567980.5:n.1046C>T
NM_002661.4:c.802C>T	NP_002652.2:p.Arg268Trp
XM_011523108.1:c.916C>T	XP_011521410.1:p.Arg306Trp
NM_002661.5:c.802C>T MANE Select	NP_002652.2:p.Arg268Trp