Canonical Allele Identifier: CA8193820

Gene: PLCG2

Linked Data

• ClinVar Variation Id: 472890
• ClinVar RCV Id: RCV000526850 ; RCV002497179
• dbSNP Id: rs139565830
• ExAC: 16:81941385 G / C
• gnomAD v2: 16-81941385-G-C
• gnomAD v3: 16-81907780-G-C
• gnomAD v4: 16-81907780-G-C
• MyVariant Identifiers: chr16:g.81941385G>C (hg19) ; chr16:g.81907780G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81907780G>C , CM000678.2:g.81907780G>C	GRCh38
NC_000016.9:g.81941385G>C , CM000678.1:g.81941385G>C	GRCh37
NC_000016.8:g.80498886G>C	NCBI36
NG_032019.2:g.173684G>C , LRG_376:g.173684G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570198.2:n.675+6G>C
ENST00000697562.1:c.*417+6G>C	ENSP00000513338.1:n.*417+6G>C
ENST00000697563.1:c.*1403+6G>C	ENSP00000513339.1:n.*1403+6G>C
ENST00000697564.1:c.1440+6G>C	ENSP00000513340.1:n.1440+6G>C
ENST00000697581.1:c.*1551+6G>C	ENSP00000513346.1:n.*1551+6G>C
ENST00000697582.1:c.1557+6G>C	ENSP00000513347.1:n.1557+6G>C
ENST00000697583.1:c.1356+6G>C	ENSP00000513349.1:n.1356+6G>C
ENST00000697584.1:c.1356+6G>C	ENSP00000513350.1:n.1356+6G>C
ENST00000697585.1:c.1356+6G>C	ENSP00000513351.1:n.1356+6G>C
ENST00000697586.1:c.1356+6G>C	ENSP00000513352.1:n.1356+6G>C
ENST00000697587.1:c.1356+6G>C	ENSP00000513353.1:n.1356+6G>C
ENST00000564138.6:c.1557+6G>C MANE Select	ENSP00000482457.1:n.1557+6G>C
ENST00000359376.7:c.1557+6G>C	ENSP00000352336.4:n.1557+6G>C
ENST00000564138.5:c.1557+6G>C	ENSP00000482457.1:n.1557+6G>C
ENST00000567980.5:n.1801+6G>C
NM_002661.4:c.1557+6G>C	NP_002652.2:n.1557+6G>C
XM_011523108.1:c.1671+6G>C	XP_011521410.1:n.1671+6G>C
NM_002661.5:c.1557+6G>C MANE Select	NP_002652.2:n.1557+6G>C