Canonical Allele Identifier: CA496699228

Gene: PLCG2

Linked Data

• dbSNP Id: rs1908520085
• gnomAD v3: 16-81889261-G-A
• gnomAD v4: 16-81889261-G-A
• MyVariant Identifiers: chr16:g.81922866G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81889261G>A , CM000678.2:g.81889261G>A	GRCh38
NC_000016.9:g.81922866G>A , CM000678.1:g.81922866G>A	GRCh37
NC_000016.8:g.80480367G>A	NCBI36
NG_032019.2:g.155165G>A , LRG_376:g.155165G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563193.2:c.855G>A	ENSP00000455533.2:p.Leu285=
ENST00000697561.1:c.*284G>A	ENSP00000513337.1:n.*284G>A
ENST00000697562.1:c.855G>A	ENSP00000513338.1:p.Leu285=
ENST00000697563.1:c.*701G>A	ENSP00000513339.1:n.*701G>A
ENST00000697564.1:c.738G>A	ENSP00000513340.1:p.Leu246=
ENST00000697565.1:n.795G>A
ENST00000697581.1:c.*849G>A	ENSP00000513346.1:n.*849G>A
ENST00000697582.1:c.855G>A	ENSP00000513347.1:p.Leu285=
ENST00000697583.1:c.654G>A	ENSP00000513349.1:p.Leu218=
ENST00000697584.1:c.654G>A	ENSP00000513350.1:p.Leu218=
ENST00000697585.1:c.654G>A	ENSP00000513351.1:p.Leu218=
ENST00000697586.1:c.654G>A	ENSP00000513352.1:p.Leu218=
ENST00000697587.1:c.654G>A	ENSP00000513353.1:p.Leu218=
ENST00000564138.6:c.855G>A MANE Select	ENSP00000482457.1:p.Leu285=
ENST00000359376.7:c.855G>A	ENSP00000352336.4:p.Leu285=
ENST00000563193.1:c.163G>A
ENST00000564138.5:c.855G>A	ENSP00000482457.1:p.Leu285=
ENST00000567980.5:n.1099G>A
NM_002661.4:c.855G>A	NP_002652.2:p.Leu285=
XM_011523108.1:c.969G>A	XP_011521410.1:p.Leu323=
NM_002661.5:c.855G>A MANE Select	NP_002652.2:p.Leu285=