Canonical Allele Identifier: CA396897843

Gene: PLCG2

Linked Data

• gnomAD v4: 16-81889265-G-C
• MyVariant Identifiers: chr16:g.81922870G>C (hg19) ; chr16:g.81889265G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81889265G>C , CM000678.2:g.81889265G>C	GRCh38
NC_000016.9:g.81922870G>C , CM000678.1:g.81922870G>C	GRCh37
NC_000016.8:g.80480371G>C	NCBI36
NG_032019.2:g.155169G>C , LRG_376:g.155169G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563193.2:c.859G>C	ENSP00000455533.2:p.Val287Leu
ENST00000697561.1:c.*288G>C	ENSP00000513337.1:n.*288G>C
ENST00000697562.1:c.859G>C	ENSP00000513338.1:p.Val287Leu
ENST00000697563.1:c.*705G>C	ENSP00000513339.1:n.*705G>C
ENST00000697564.1:c.742G>C	ENSP00000513340.1:p.Val248Leu
ENST00000697565.1:n.799G>C
ENST00000697581.1:c.*853G>C	ENSP00000513346.1:n.*853G>C
ENST00000697582.1:c.859G>C	ENSP00000513347.1:p.Val287Leu
ENST00000697583.1:c.658G>C	ENSP00000513349.1:p.Val220Leu
ENST00000697584.1:c.658G>C	ENSP00000513350.1:p.Val220Leu
ENST00000697585.1:c.658G>C	ENSP00000513351.1:p.Val220Leu
ENST00000697586.1:c.658G>C	ENSP00000513352.1:p.Val220Leu
ENST00000697587.1:c.658G>C	ENSP00000513353.1:p.Val220Leu
ENST00000564138.6:c.859G>C MANE Select	ENSP00000482457.1:p.Val287Leu
ENST00000359376.7:c.859G>C	ENSP00000352336.4:p.Val287Leu
ENST00000563193.1:c.167G>C
ENST00000564138.5:c.859G>C	ENSP00000482457.1:p.Val287Leu
ENST00000567980.5:n.1103G>C
NM_002661.4:c.859G>C	NP_002652.2:p.Val287Leu
XM_011523108.1:c.973G>C	XP_011521410.1:p.Val325Leu
NM_002661.5:c.859G>C MANE Select	NP_002652.2:p.Val287Leu