Canonical Allele Identifier: CA2573055386

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 1335777
• ClinVar RCV Id: RCV001816543
• dbSNP Id: rs2147750934

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110952_71110962del , CM000685.2:g.71110952_71110962del	GRCh38
NC_000023.10:g.70330802_70330812del , CM000685.1:g.70330802_70330812del	GRCh37
NC_000023.9:g.70247527_70247537del	NCBI36
NG_009088.1:g.5593_5603del , LRG_150:g.5593_5603del
NG_021141.1:g.828_838del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.205_215del	ENSP00000421262.2:p.Tyr69HisfsTer7
ENST00000696903.1:n.256_266del
ENST00000374202.7:c.205_215del MANE Select	ENSP00000363318.3:p.Tyr69HisfsTer7
ENST00000642473.1:n.569_579del
ENST00000644022.1:n.611_621del
ENST00000644708.1:n.611_621del
ENST00000644911.1:n.611_621del
ENST00000645266.1:c.205_215del	ENSP00000493734.1:p.Tyr69HisfsTer7
ENST00000645518.1:c.205_215del	ENSP00000493986.1:p.Tyr69HisfsTer7
ENST00000646106.1:c.205_215del	ENSP00000496437.1:p.Tyr69HisfsTer7
ENST00000646505.1:c.205_215del	ENSP00000496673.1:p.Tyr69HisfsTer7
ENST00000647492.1:c.205_215del	ENSP00000495340.1:p.Tyr69HisfsTer7
ENST00000276110.6:n.590_600del
ENST00000374188.7:c.-512_-502del	ENSP00000363303.3:n.-512_-502del
ENST00000374202.6:c.205_215del	ENSP00000363318.2:p.Tyr69HisfsTer7
ENST00000456850.6:c.24+464_24+474del	ENSP00000388967.2:n.24+464_24+474del
ENST00000464642.5:c.73_83del	ENSP00000425233.1:p.Tyr25HisfsTer7
ENST00000473378.1:c.142_152del	ENSP00000423601.1:p.Tyr48HisfsTer7
ENST00000487883.1:c.169_179del	ENSP00000423966.1:p.Tyr57HisfsTer7
ENST00000512747.3:n.272_282del
NM_000206.2:c.205_215del , LRG_150t1:c.205_215del	NP_000197.1:p.Tyr69HisfsTer7
NM_000206.3:c.205_215del MANE Select	NP_000197.1:p.Tyr69HisfsTer7