Canonical Allele Identifier: CA396897673

Gene: PLCG2

Linked Data

• gnomAD v4: 16-81889186-G-C
• MyVariant Identifiers: chr16:g.81922791G>C (hg19) ; chr16:g.81889186G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81889186G>C , CM000678.2:g.81889186G>C	GRCh38
NC_000016.9:g.81922791G>C , CM000678.1:g.81922791G>C	GRCh37
NC_000016.8:g.80480292G>C	NCBI36
NG_032019.2:g.155090G>C , LRG_376:g.155090G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563193.2:c.780G>C	ENSP00000455533.2:p.Gln260His
ENST00000697561.1:c.*209G>C	ENSP00000513337.1:n.*209G>C
ENST00000697562.1:c.780G>C	ENSP00000513338.1:p.Gln260His
ENST00000697563.1:c.*626G>C	ENSP00000513339.1:n.*626G>C
ENST00000697564.1:c.663G>C	ENSP00000513340.1:p.Gln221His
ENST00000697565.1:n.720G>C
ENST00000697581.1:c.*774G>C	ENSP00000513346.1:n.*774G>C
ENST00000697582.1:c.780G>C	ENSP00000513347.1:p.Gln260His
ENST00000697583.1:c.579G>C	ENSP00000513349.1:p.Gln193His
ENST00000697584.1:c.579G>C	ENSP00000513350.1:p.Gln193His
ENST00000697585.1:c.579G>C	ENSP00000513351.1:p.Gln193His
ENST00000697586.1:c.579G>C	ENSP00000513352.1:p.Gln193His
ENST00000697587.1:c.579G>C	ENSP00000513353.1:p.Gln193His
ENST00000564138.6:c.780G>C MANE Select	ENSP00000482457.1:p.Gln260His
ENST00000359376.7:c.780G>C	ENSP00000352336.4:p.Gln260His
ENST00000563193.1:c.88G>C
ENST00000564138.5:c.780G>C	ENSP00000482457.1:p.Gln260His
ENST00000567980.5:n.1024G>C
NM_002661.4:c.780G>C	NP_002652.2:p.Gln260His
XM_011523108.1:c.894G>C	XP_011521410.1:p.Gln298His
NM_002661.5:c.780G>C MANE Select	NP_002652.2:p.Gln260His