Canonical Allele Identifier: CA396897667

Gene: PLCG2

Linked Data

• ClinVar Variation Id: 2703589
• ClinVar RCV Id: RCV003528854
• gnomAD v4: 16-81889182-C-T
• MyVariant Identifiers: chr16:g.81922787C>T (hg19) ; chr16:g.81889182C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81889182C>T , CM000678.2:g.81889182C>T	GRCh38
NC_000016.9:g.81922787C>T , CM000678.1:g.81922787C>T	GRCh37
NC_000016.8:g.80480288C>T	NCBI36
NG_032019.2:g.155086C>T , LRG_376:g.155086C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563193.2:c.776C>T	ENSP00000455533.2:p.Ala259Val
ENST00000697561.1:c.*205C>T	ENSP00000513337.1:n.*205C>T
ENST00000697562.1:c.776C>T	ENSP00000513338.1:p.Ala259Val
ENST00000697563.1:c.*622C>T	ENSP00000513339.1:n.*622C>T
ENST00000697564.1:c.659C>T	ENSP00000513340.1:p.Ala220Val
ENST00000697565.1:n.716C>T
ENST00000697581.1:c.*770C>T	ENSP00000513346.1:n.*770C>T
ENST00000697582.1:c.776C>T	ENSP00000513347.1:p.Ala259Val
ENST00000697583.1:c.575C>T	ENSP00000513349.1:p.Ala192Val
ENST00000697584.1:c.575C>T	ENSP00000513350.1:p.Ala192Val
ENST00000697585.1:c.575C>T	ENSP00000513351.1:p.Ala192Val
ENST00000697586.1:c.575C>T	ENSP00000513352.1:p.Ala192Val
ENST00000697587.1:c.575C>T	ENSP00000513353.1:p.Ala192Val
ENST00000564138.6:c.776C>T MANE Select	ENSP00000482457.1:p.Ala259Val
ENST00000359376.7:c.776C>T	ENSP00000352336.4:p.Ala259Val
ENST00000563193.1:c.84C>T
ENST00000564138.5:c.776C>T	ENSP00000482457.1:p.Ala259Val
ENST00000567980.5:n.1020C>T
NM_002661.4:c.776C>T	NP_002652.2:p.Ala259Val
XM_011523108.1:c.890C>T	XP_011521410.1:p.Ala297Val
NM_002661.5:c.776C>T MANE Select	NP_002652.2:p.Ala259Val