Canonical Allele Identifier: CA2695235085

Gene: IL2RG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110961dup , CM000685.2:g.71110961dup	GRCh38
NC_000023.10:g.70330811dup , CM000685.1:g.70330811dup	GRCh37
NC_000023.9:g.70247536dup	NCBI36
NG_009088.1:g.5593dup , LRG_150:g.5593dup
NG_021141.1:g.828dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.205dup	ENSP00000421262.2:p.Tyr69LeufsTer11
ENST00000696903.1:n.256dup
ENST00000374202.7:c.205dup MANE Select	ENSP00000363318.3:p.Tyr69LeufsTer11
ENST00000642473.1:n.569dup
ENST00000644022.1:n.611dup
ENST00000644708.1:n.611dup
ENST00000644911.1:n.611dup
ENST00000645266.1:c.205dup	ENSP00000493734.1:p.Tyr69LeufsTer11
ENST00000645518.1:c.205dup	ENSP00000493986.1:p.Tyr69LeufsTer11
ENST00000646106.1:c.205dup	ENSP00000496437.1:p.Tyr69LeufsTer11
ENST00000646505.1:c.205dup	ENSP00000496673.1:p.Tyr69LeufsTer11
ENST00000647492.1:c.205dup	ENSP00000495340.1:p.Tyr69LeufsTer11
ENST00000276110.6:n.590dup
ENST00000374188.7:c.-512dup	ENSP00000363303.3:n.-512dup
ENST00000374202.6:c.205dup	ENSP00000363318.2:p.Tyr69LeufsTer11
ENST00000456850.6:c.24+464dup	ENSP00000388967.2:n.24+464dup
ENST00000464642.5:c.73dup	ENSP00000425233.1:p.Tyr25LeufsTer11
ENST00000473378.1:c.142dup	ENSP00000423601.1:p.Tyr48LeufsTer11
ENST00000487883.1:c.169dup	ENSP00000423966.1:p.Tyr57LeufsTer11
ENST00000512747.3:n.272dup
NM_000206.2:c.205dup , LRG_150t1:c.205dup	NP_000197.1:p.Tyr69LeufsTer11
NM_000206.3:c.205dup MANE Select	NP_000197.1:p.Tyr69LeufsTer11