Canonical Allele Identifier: CA285123793

Gene: PLCG2

Linked Data

• dbSNP Id: rs1001137639
• gnomAD v2: 16-81922800-C-G
• gnomAD v3: 16-81889195-C-G
• gnomAD v4: 16-81889195-C-G
• MyVariant Identifiers: chr16:g.81922800C>G (hg19) ; chr16:g.81889195C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81889195C>G , CM000678.2:g.81889195C>G	GRCh38
NC_000016.9:g.81922800C>G , CM000678.1:g.81922800C>G	GRCh37
NC_000016.8:g.80480301C>G	NCBI36
NG_032019.2:g.155099C>G , LRG_376:g.155099C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563193.2:c.789C>G	ENSP00000455533.2:p.Asn263Lys
ENST00000697561.1:c.*218C>G	ENSP00000513337.1:n.*218C>G
ENST00000697562.1:c.789C>G	ENSP00000513338.1:p.Asn263Lys
ENST00000697563.1:c.*635C>G	ENSP00000513339.1:n.*635C>G
ENST00000697564.1:c.672C>G	ENSP00000513340.1:p.Asn224Lys
ENST00000697565.1:n.729C>G
ENST00000697581.1:c.*783C>G	ENSP00000513346.1:n.*783C>G
ENST00000697582.1:c.789C>G	ENSP00000513347.1:p.Asn263Lys
ENST00000697583.1:c.588C>G	ENSP00000513349.1:p.Asn196Lys
ENST00000697584.1:c.588C>G	ENSP00000513350.1:p.Asn196Lys
ENST00000697585.1:c.588C>G	ENSP00000513351.1:p.Asn196Lys
ENST00000697586.1:c.588C>G	ENSP00000513352.1:p.Asn196Lys
ENST00000697587.1:c.588C>G	ENSP00000513353.1:p.Asn196Lys
ENST00000564138.6:c.789C>G MANE Select	ENSP00000482457.1:p.Asn263Lys
ENST00000359376.7:c.789C>G	ENSP00000352336.4:p.Asn263Lys
ENST00000563193.1:c.97C>G
ENST00000564138.5:c.789C>G	ENSP00000482457.1:p.Asn263Lys
ENST00000567980.5:n.1033C>G
NM_002661.4:c.789C>G	NP_002652.2:p.Asn263Lys
XM_011523108.1:c.903C>G	XP_011521410.1:p.Asn301Lys
NM_002661.5:c.789C>G MANE Select	NP_002652.2:p.Asn263Lys