Canonical Allele Identifier: CA658653874

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 445479
• ClinVar RCV Id: RCV000514620
• dbSNP Id: rs1556330940
• MyVariant Identifiers: chrX:g.70330754_70330755insCAGA (hg19) ; chrX:g.71110904_71110905insCAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110905_71110908dup , CM000685.2:g.71110905_71110908dup	GRCh38
NC_000023.10:g.70330755_70330758dup , CM000685.1:g.70330755_70330758dup	GRCh37
NC_000023.9:g.70247480_70247483dup	NCBI36
NG_009088.1:g.5646_5649dup , LRG_150:g.5646_5649dup
NG_021141.1:g.881_884dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.258_261dup	ENSP00000421262.2:p.His88SerfsTer10
ENST00000696903.1:n.309_312dup
ENST00000374202.7:c.258_261dup MANE Select	ENSP00000363318.3:p.His88SerfsTer10
ENST00000642473.1:n.622_625dup
ENST00000644022.1:n.664_667dup
ENST00000644708.1:n.664_667dup
ENST00000644911.1:n.664_667dup
ENST00000645266.1:c.258_261dup	ENSP00000493734.1:p.His88SerfsTer10
ENST00000645518.1:c.258_261dup	ENSP00000493986.1:p.His88SerfsTer10
ENST00000646106.1:c.258_261dup	ENSP00000496437.1:p.His88SerfsTer10
ENST00000646505.1:c.258_261dup	ENSP00000496673.1:p.His88SerfsTer10
ENST00000647492.1:c.258_261dup	ENSP00000495340.1:p.His88SerfsTer10
ENST00000276110.6:n.643_646dup
ENST00000374188.7:c.-459_-456dup	ENSP00000363303.3:n.-459_-456dup
ENST00000374202.6:c.258_261dup	ENSP00000363318.2:p.His88SerfsTer10
ENST00000456850.6:c.24+517_24+520dup	ENSP00000388967.2:n.24+517_24+520dup
ENST00000464642.5:c.126_129dup	ENSP00000425233.1:p.His44SerfsTer10
ENST00000473378.1:c.195_198dup	ENSP00000423601.1:p.His67SerfsTer10
ENST00000487883.1:c.222_225dup	ENSP00000423966.1:p.His76SerfsTer10
ENST00000512747.3:n.325_328dup
NM_000206.2:c.258_261dup , LRG_150t1:c.258_261dup	NP_000197.1:p.His88SerfsTer10
NM_000206.3:c.258_261dup MANE Select	NP_000197.1:p.His88SerfsTer10