Canonical Allele Identifier: CA8193757

Gene: PLCG2

Linked Data

• ClinVar Variation Id: 440158
• ClinVar RCV Id: RCV000548599 ; RCV001573290
• dbSNP Id: rs187956469
• ExAC: 16:81939089 T / C
• gnomAD v2: 16-81939089-T-C
• gnomAD v3: 16-81905484-T-C
• gnomAD v4: 16-81905484-T-C
• MyVariant Identifiers: chr16:g.81939089T>C (hg19) ; chr16:g.81905484T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81905484T>C , CM000678.2:g.81905484T>C	GRCh38
NC_000016.9:g.81939089T>C , CM000678.1:g.81939089T>C	GRCh37
NC_000016.8:g.80496590T>C	NCBI36
NG_032019.2:g.171388T>C , LRG_376:g.171388T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563375.2:c.263T>C
ENST00000570198.2:n.562T>C
ENST00000697562.1:c.*304T>C	ENSP00000513338.1:n.*304T>C
ENST00000697563.1:c.*1290T>C	ENSP00000513339.1:n.*1290T>C
ENST00000697564.1:c.1327T>C	ENSP00000513340.1:p.Tyr443His
ENST00000697565.1:n.1384T>C
ENST00000697581.1:c.*1438T>C	ENSP00000513346.1:n.*1438T>C
ENST00000697582.1:c.1444T>C	ENSP00000513347.1:p.Tyr482His
ENST00000697583.1:c.1243T>C	ENSP00000513349.1:p.Tyr415His
ENST00000697584.1:c.1243T>C	ENSP00000513350.1:p.Tyr415His
ENST00000697585.1:c.1243T>C	ENSP00000513351.1:p.Tyr415His
ENST00000697586.1:c.1243T>C	ENSP00000513352.1:p.Tyr415His
ENST00000697587.1:c.1243T>C	ENSP00000513353.1:p.Tyr415His
ENST00000564138.6:c.1444T>C MANE Select	ENSP00000482457.1:p.Tyr482His
ENST00000359376.7:c.1444T>C	ENSP00000352336.4:p.Tyr482His
ENST00000563375.1:c.263T>C
ENST00000564138.5:c.1444T>C	ENSP00000482457.1:p.Tyr482His
ENST00000567980.5:n.1688T>C
ENST00000570198.1:n.560T>C
NM_002661.4:c.1444T>C	NP_002652.2:p.Tyr482His
XM_011523108.1:c.1558T>C	XP_011521410.1:p.Tyr520His
NM_002661.5:c.1444T>C MANE Select	NP_002652.2:p.Tyr482His