Canonical Allele Identifier: CA915951162

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 2721286
• ClinVar RCV Id: RCV003511073
• dbSNP Id: rs1602289405

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110525_71110527delinsCCC , CM000685.2:g.71110525_71110527delinsCCC	GRCh38
NC_000023.10:g.70330375_70330377delinsCCC , CM000685.1:g.70330375_70330377delinsCCC	GRCh37
NC_000023.9:g.70247100_70247102delinsCCC	NCBI36
NG_009088.1:g.6027_6029delinsGGG , LRG_150:g.6027_6029delinsGGG
NG_021141.1:g.1262_1264delinsGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000482750.6:c.431_433delinsGGG	ENSP00000421262.2:p.Gln144_Met145delinsArgVal
ENST00000696903.1:n.482_484delinsGGG
ENST00000374202.7:c.431_433delinsGGG MANE Select	ENSP00000363318.3:p.Gln144_Met145delinsArgVal
ENST00000642473.1:n.795_797delinsGGG
ENST00000644022.1:n.837_839delinsGGG
ENST00000644708.1:n.837_839delinsGGG
ENST00000644911.1:n.837_839delinsGGG
ENST00000645266.1:c.431_433delinsGGG	ENSP00000493734.1:p.Gln144_Met145delinsArgVal
ENST00000645518.1:c.431_433delinsGGG	ENSP00000493986.1:p.Gln144_Met145delinsArgVal
ENST00000646106.1:c.431_433delinsGGG	ENSP00000496437.1:p.Gln144_Met145delinsArgVal
ENST00000646505.1:c.431_433delinsGGG	ENSP00000496673.1:p.Gln144_Met145delinsArgVal
ENST00000647492.1:c.431_433delinsGGG	ENSP00000495340.1:p.Gln144_Met145delinsArgVal
ENST00000276110.6:n.816_818delinsGGG
ENST00000374188.7:c.-286_-284delinsGGG	ENSP00000363303.3:n.-286_-284delinsGGG
ENST00000374202.6:c.431_433delinsGGG	ENSP00000363318.2:p.Gln144_Met145delinsArgVal
ENST00000456850.6:c.24+898_24+900delinsGGG	ENSP00000388967.2:n.24+898_24+900delinsGGG
ENST00000464642.5:c.299_301delinsGGG	ENSP00000425233.1:p.Gln100_Met101delinsArgVal
ENST00000487883.1:c.395_397delinsGGG	ENSP00000423966.1:p.Gln132_Met133delinsArgVal
ENST00000512747.3:n.498_500delinsGGG
NM_000206.2:c.431_433delinsGGG , LRG_150t1:c.431_433delinsGGG	NP_000197.1:p.Gln144_Met145delinsArgVal
NM_000206.3:c.431_433delinsGGG MANE Select	NP_000197.1:p.Gln144_Met145delinsArgVal