Canonical Allele Identifier: CA413496109

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 1306857
• ClinVar RCV Id: RCV001771037 ; RCV002032861
• dbSNP Id: rs2147748325
• gnomAD v4: X-71109363-A-G
• MyVariant Identifiers: chrX:g.70329213A>G (hg19) ; chrX:g.71109363A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71109363A>G , CM000685.2:g.71109363A>G	GRCh38
NC_000023.10:g.70329213A>G , CM000685.1:g.70329213A>G	GRCh37
NC_000023.9:g.70245938A>G	NCBI36
NG_009088.1:g.7191T>C , LRG_150:g.7191T>C
NG_021141.1:g.2426T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.622T>C	ENSP00000421262.2:p.Phe208Leu
ENST00000696903.1:n.673T>C
ENST00000374202.7:c.622T>C MANE Select	ENSP00000363318.3:p.Phe208Leu
ENST00000642473.1:n.986T>C
ENST00000644022.1:n.888T>C
ENST00000644708.1:n.1028T>C
ENST00000644911.1:n.1028T>C
ENST00000645266.1:c.622T>C	ENSP00000493734.1:p.Phe208Leu
ENST00000645518.1:c.622T>C	ENSP00000493986.1:p.Phe208Leu
ENST00000646106.1:c.622T>C	ENSP00000496437.1:p.Phe208Leu
ENST00000646505.1:c.622T>C	ENSP00000496673.1:p.Phe208Leu
ENST00000647492.1:c.622T>C	ENSP00000495340.1:p.Phe208Leu
ENST00000276110.6:n.1215T>C
ENST00000374188.7:c.-95T>C	ENSP00000363303.3:n.-95T>C
ENST00000374202.6:c.622T>C	ENSP00000363318.2:p.Phe208Leu
ENST00000456850.6:c.52T>C	ENSP00000388967.2:p.Phe18Leu
ENST00000464642.5:c.490T>C	ENSP00000425233.1:p.Phe164Leu
ENST00000482750.5:c.35T>C
ENST00000512747.3:n.549T>C
NM_000206.2:c.622T>C , LRG_150t1:c.622T>C	NP_000197.1:p.Phe208Leu
NM_000206.3:c.622T>C MANE Select	NP_000197.1:p.Phe208Leu