Canonical Allele Identifier: CA2580101347

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 2446010
• ClinVar RCV Id: RCV003156166

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110622_71110636del , CM000685.2:g.71110622_71110636del	GRCh38
NC_000023.10:g.70330472_70330486del , CM000685.1:g.70330472_70330486del	GRCh37
NC_000023.9:g.70247197_70247211del	NCBI36
NG_009088.1:g.5922_5936del , LRG_150:g.5922_5936del
NG_021141.1:g.1157_1171del

Transcript Alleles

HGVS	Amino-acid change
ENST00000482750.6:c.326_340del	ENSP00000421262.2:p.Glu109_Ser113del
ENST00000696903.1:n.377_391del
ENST00000374202.7:c.326_340del MANE Select	ENSP00000363318.3:p.Glu109_Ser113del
ENST00000642473.1:n.690_704del
ENST00000644022.1:n.732_746del
ENST00000644708.1:n.732_746del
ENST00000644911.1:n.732_746del
ENST00000645266.1:c.326_340del	ENSP00000493734.1:p.Glu109_Ser113del
ENST00000645518.1:c.326_340del	ENSP00000493986.1:p.Glu109_Ser113del
ENST00000646106.1:c.326_340del	ENSP00000496437.1:p.Glu109_Ser113del
ENST00000646505.1:c.326_340del	ENSP00000496673.1:p.Glu109_Ser113del
ENST00000647492.1:c.326_340del	ENSP00000495340.1:p.Glu109_Ser113del
ENST00000276110.6:n.711_725del
ENST00000374188.7:c.-391_-377del	ENSP00000363303.3:n.-391_-377del
ENST00000374202.6:c.326_340del	ENSP00000363318.2:p.Glu109_Ser113del
ENST00000456850.6:c.24+793_24+807del	ENSP00000388967.2:n.24+793_24+807del
ENST00000464642.5:c.194_208del	ENSP00000425233.1:p.Glu65_Ser69del
ENST00000473378.1:c.263_277del	ENSP00000423601.1:p.Glu88_Ser92del
ENST00000487883.1:c.290_304del	ENSP00000423966.1:p.Glu97_Ser101del
ENST00000512747.3:n.393_407del
NM_000206.2:c.326_340del , LRG_150t1:c.326_340del	NP_000197.1:p.Glu109_Ser113del
NM_000206.3:c.326_340del MANE Select	NP_000197.1:p.Glu109_Ser113del