Canonical Allele Identifier: CA396900488

Gene: PLCG2

Linked Data

• ClinVar Variation Id: 1345702
• ClinVar RCV Id: RCV002037486
• dbSNP Id: rs2143474867
• MyVariant Identifiers: chr16:g.81888071A>C (hg19) ; chr16:g.81854466A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81854466A>C , CM000678.2:g.81854466A>C	GRCh38
NC_000016.9:g.81888071A>C , CM000678.1:g.81888071A>C	GRCh37
NC_000016.8:g.80445572A>C	NCBI36
NG_032019.2:g.120370A>C , LRG_376:g.120370A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563193.2:c.216A>C	ENSP00000455533.2:p.Glu72Asp
ENST00000697561.1:c.216A>C	ENSP00000513337.1:p.Glu72Asp
ENST00000697562.1:c.216A>C	ENSP00000513338.1:p.Glu72Asp
ENST00000697563.1:c.216A>C	ENSP00000513339.1:p.Glu72Asp
ENST00000697564.1:c.216A>C	ENSP00000513340.1:p.Glu72Asp
ENST00000697565.1:n.156A>C
ENST00000697581.1:c.*210A>C	ENSP00000513346.1:n.*210A>C
ENST00000697582.1:c.216A>C	ENSP00000513347.1:p.Glu72Asp
ENST00000697583.1:c.15A>C	ENSP00000513349.1:p.Glu5Asp
ENST00000697584.1:c.15A>C	ENSP00000513350.1:p.Glu5Asp
ENST00000697585.1:c.15A>C	ENSP00000513351.1:p.Glu5Asp
ENST00000697586.1:c.15A>C	ENSP00000513352.1:p.Glu5Asp
ENST00000697587.1:c.15A>C	ENSP00000513353.1:p.Glu5Asp
ENST00000564138.6:c.216A>C MANE Select	ENSP00000482457.1:p.Glu72Asp
ENST00000359376.7:c.216A>C	ENSP00000352336.4:p.Glu72Asp
ENST00000564138.5:c.216A>C	ENSP00000482457.1:p.Glu72Asp
ENST00000565054.5:c.216A>C	ENSP00000455956.1:p.Glu72Asp
ENST00000565400.5:n.540A>C
ENST00000567980.5:n.460A>C
ENST00000569523.1:n.248A>C
ENST00000569929.5:n.346A>C
NM_002661.4:c.216A>C	NP_002652.2:p.Glu72Asp
XM_011523108.1:c.330A>C	XP_011521410.1:p.Glu110Asp
NM_002661.5:c.216A>C MANE Select	NP_002652.2:p.Glu72Asp