Canonical Allele Identifier: CA2580101348

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 1725342
• ClinVar RCV Id: RCV002309026

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110930_71110931delinsA , CM000685.2:g.71110930_71110931delinsA	GRCh38
NC_000023.10:g.70330780_70330781delinsA , CM000685.1:g.70330780_70330781delinsA	GRCh37
NC_000023.9:g.70247505_70247506delinsA	NCBI36
NG_009088.1:g.5623_5624delinsT , LRG_150:g.5623_5624delinsT
NG_021141.1:g.858_859delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.235_236delinsT	ENSP00000421262.2:p.Glu79CysfsTer?
ENST00000696903.1:n.286_287delinsT
ENST00000374202.7:c.235_236delinsT MANE Select	ENSP00000363318.3:p.Glu79CysfsTer?
ENST00000642473.1:n.599_600delinsT
ENST00000644022.1:n.641_642delinsT
ENST00000644708.1:n.641_642delinsT
ENST00000644911.1:n.641_642delinsT
ENST00000645266.1:c.235_236delinsT	ENSP00000493734.1:p.Glu79CysfsTer?
ENST00000645518.1:c.235_236delinsT	ENSP00000493986.1:p.Glu79CysfsTer?
ENST00000646106.1:c.235_236delinsT	ENSP00000496437.1:p.Glu79CysfsTer?
ENST00000646505.1:c.235_236delinsT	ENSP00000496673.1:p.Glu79CysfsTer?
ENST00000647492.1:c.235_236delinsT	ENSP00000495340.1:p.Glu79CysfsTer?
ENST00000276110.6:n.620_621delinsT
ENST00000374188.7:c.-482_-481delinsT	ENSP00000363303.3:n.-482_-481delinsT
ENST00000374202.6:c.235_236delinsT	ENSP00000363318.2:p.Glu79CysfsTer?
ENST00000456850.6:c.24+494_24+495delinsT	ENSP00000388967.2:n.24+494_24+495delinsT
ENST00000464642.5:c.103_104delinsT	ENSP00000425233.1:p.Glu35CysfsTer?
ENST00000473378.1:c.172_173delinsT	ENSP00000423601.1:p.Glu58CysfsTer?
ENST00000487883.1:c.199_200delinsT	ENSP00000423966.1:p.Glu67CysfsTer?
ENST00000512747.3:n.302_303delinsT
NM_000206.2:c.235_236delinsT , LRG_150t1:c.235_236delinsT	NP_000197.1:p.Glu79CysfsTer?
NM_000206.3:c.235_236delinsT MANE Select	NP_000197.1:p.Glu79CysfsTer?