Canonical Allele Identifier: CA915951163

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 817464
• ClinVar RCV Id: RCV001008594 ; RCV001041771
• dbSNP Id: rs1602289631

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110940_71110941insAGCA , CM000685.2:g.71110940_71110941insAGCA	GRCh38
NC_000023.10:g.70330790_70330791insAGCA , CM000685.1:g.70330790_70330791insAGCA	GRCh37
NC_000023.9:g.70247515_70247516insAGCA	NCBI36
NG_009088.1:g.5613_5614insTGCT , LRG_150:g.5613_5614insTGCT
NG_021141.1:g.848_849insTGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.225_226insTGCT	ENSP00000421262.2:p.Ser76CysfsTer2
ENST00000696903.1:n.276_277insTGCT
ENST00000374202.7:c.225_226insTGCT MANE Select	ENSP00000363318.3:p.Ser76CysfsTer2
ENST00000642473.1:n.589_590insTGCT
ENST00000644022.1:n.631_632insTGCT
ENST00000644708.1:n.631_632insTGCT
ENST00000644911.1:n.631_632insTGCT
ENST00000645266.1:c.225_226insTGCT	ENSP00000493734.1:p.Ser76CysfsTer2
ENST00000645518.1:c.225_226insTGCT	ENSP00000493986.1:p.Ser76CysfsTer2
ENST00000646106.1:c.225_226insTGCT	ENSP00000496437.1:p.Ser76CysfsTer2
ENST00000646505.1:c.225_226insTGCT	ENSP00000496673.1:p.Ser76CysfsTer2
ENST00000647492.1:c.225_226insTGCT	ENSP00000495340.1:p.Ser76CysfsTer2
ENST00000276110.6:n.610_611insTGCT
ENST00000374188.7:c.-492_-491insTGCT	ENSP00000363303.3:n.-492_-491insTGCT
ENST00000374202.6:c.225_226insTGCT	ENSP00000363318.2:p.Ser76CysfsTer2
ENST00000456850.6:c.24+484_24+485insTGCT	ENSP00000388967.2:n.24+484_24+485insTGCT
ENST00000464642.5:c.93_94insTGCT	ENSP00000425233.1:p.Ser32CysfsTer2
ENST00000473378.1:c.162_163insTGCT	ENSP00000423601.1:p.Ser55CysfsTer2
ENST00000487883.1:c.189_190insTGCT	ENSP00000423966.1:p.Ser64CysfsTer2
ENST00000512747.3:n.292_293insTGCT
NM_000206.2:c.225_226insTGCT , LRG_150t1:c.225_226insTGCT	NP_000197.1:p.Ser76CysfsTer2
NM_000206.3:c.225_226insTGCT MANE Select	NP_000197.1:p.Ser76CysfsTer2