Canonical Allele Identifier: CA120883

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 10023
• ClinVar RCV Id: RCV000010706 ; RCV001038281
• dbSNP Id: rs137852510
• MyVariant Identifiers: chrX:g.70328173A>T (hg19) ; chrX:g.71108323A>T (hg38)
• PubMed: PMID:7883965

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71108323A>T , CM000685.2:g.71108323A>T	GRCh38
NC_000023.10:g.70328173A>T , CM000685.1:g.70328173A>T	GRCh37
NC_000023.9:g.70244898A>T	NCBI36
NG_009088.1:g.8231T>A , LRG_150:g.8231T>A
NG_021141.1:g.3466T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000482750.6:c.781T>A	ENSP00000421262.2:p.Ter261Arg
ENST00000696903.1:n.1181T>A
ENST00000374202.7:c.878T>A MANE Select	ENSP00000363318.3:p.Leu293Gln
ENST00000642473.1:n.1242T>A
ENST00000644022.1:n.1144T>A
ENST00000644708.1:n.1187T>A
ENST00000644911.1:n.1284T>A
ENST00000645266.1:c.878T>A	ENSP00000493734.1:p.Leu293Gln
ENST00000645518.1:c.878T>A	ENSP00000493986.1:p.Leu293Gln
ENST00000646106.1:c.878T>A	ENSP00000496437.1:p.Leu293Gln
ENST00000646505.1:c.878T>A	ENSP00000496673.1:p.Leu293Gln
ENST00000647492.1:c.878T>A	ENSP00000495340.1:p.Leu293Gln
ENST00000276110.6:n.1471T>A
ENST00000374188.7:c.65T>A	ENSP00000363303.3:p.Leu22Gln
ENST00000374202.6:c.878T>A	ENSP00000363318.2:p.Leu293Gln
ENST00000456850.6:c.308T>A	ENSP00000388967.2:p.Leu103Gln
ENST00000482750.5:c.194T>A
ENST00000512747.3:n.1057T>A
NM_000206.2:c.878T>A , LRG_150t1:c.878T>A	NP_000197.1:p.Leu293Gln
NM_000206.3:c.878T>A MANE Select	NP_000197.1:p.Leu293Gln