Canonical Allele Identifier: CA2739273591

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 2824962
• ClinVar RCV Id: RCV003622814

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110897_71110898del , CM000685.2:g.71110897_71110898del	GRCh38
NC_000023.10:g.70330747_70330748del , CM000685.1:g.70330747_70330748del	GRCh37
NC_000023.9:g.70247472_70247473del	NCBI36
NG_009088.1:g.5656_5657del , LRG_150:g.5656_5657del
NG_021141.1:g.891_892del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.268_269del	ENSP00000421262.2:p.Trp90ValfsTer6
ENST00000696903.1:n.319_320del
ENST00000374202.7:c.268_269del MANE Select	ENSP00000363318.3:p.Trp90ValfsTer6
ENST00000642473.1:n.632_633del
ENST00000644022.1:n.674_675del
ENST00000644708.1:n.674_675del
ENST00000644911.1:n.674_675del
ENST00000645266.1:c.268_269del	ENSP00000493734.1:p.Trp90ValfsTer6
ENST00000645518.1:c.268_269del	ENSP00000493986.1:p.Trp90ValfsTer6
ENST00000646106.1:c.268_269del	ENSP00000496437.1:p.Trp90ValfsTer6
ENST00000646505.1:c.268_269del	ENSP00000496673.1:p.Trp90ValfsTer6
ENST00000647492.1:c.268_269del	ENSP00000495340.1:p.Trp90ValfsTer6
ENST00000276110.6:n.653_654del
ENST00000374188.7:c.-449_-448del	ENSP00000363303.3:n.-449_-448del
ENST00000374202.6:c.268_269del	ENSP00000363318.2:p.Trp90ValfsTer6
ENST00000456850.6:c.24+527_24+528del	ENSP00000388967.2:n.24+527_24+528del
ENST00000464642.5:c.136_137del	ENSP00000425233.1:p.Trp46ValfsTer6
ENST00000473378.1:c.205_206del	ENSP00000423601.1:p.Trp69ValfsTer6
ENST00000487883.1:c.232_233del	ENSP00000423966.1:p.Trp78ValfsTer6
ENST00000512747.3:n.335_336del
NM_000206.2:c.268_269del , LRG_150t1:c.268_269del	NP_000197.1:p.Trp90ValfsTer6
NM_000206.3:c.268_269del MANE Select	NP_000197.1:p.Trp90ValfsTer6