Canonical Allele Identifier: CA413497163

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 1066149
• ClinVar RCV Id: RCV001377072 ; RCV001751746
• dbSNP Id: rs1602289649
• MyVariant Identifiers: chrX:g.70330832A>G (hg19) ; chrX:g.71110982A>G (hg38)
• ERepo: CA413497163/MONDO:0010315/129

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110982A>G , CM000685.2:g.71110982A>G	GRCh38
NC_000023.10:g.70330832A>G , CM000685.1:g.70330832A>G	GRCh37
NC_000023.9:g.70247557A>G	NCBI36
NG_009088.1:g.5572T>C , LRG_150:g.5572T>C
NG_021141.1:g.807T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.184T>C	ENSP00000421262.2:p.Cys62Arg
ENST00000696903.1:n.235T>C
ENST00000374202.7:c.184T>C MANE Select	ENSP00000363318.3:p.Cys62Arg
ENST00000642473.1:n.548T>C
ENST00000644022.1:n.590T>C
ENST00000644708.1:n.590T>C
ENST00000644911.1:n.590T>C
ENST00000645266.1:c.184T>C	ENSP00000493734.1:p.Cys62Arg
ENST00000645518.1:c.184T>C	ENSP00000493986.1:p.Cys62Arg
ENST00000646106.1:c.184T>C	ENSP00000496437.1:p.Cys62Arg
ENST00000646505.1:c.184T>C	ENSP00000496673.1:p.Cys62Arg
ENST00000647492.1:c.184T>C	ENSP00000495340.1:p.Cys62Arg
ENST00000276110.6:n.569T>C
ENST00000374188.7:c.-533T>C	ENSP00000363303.3:n.-533T>C
ENST00000374202.6:c.184T>C	ENSP00000363318.2:p.Cys62Arg
ENST00000456850.6:c.24+443T>C	ENSP00000388967.2:n.24+443T>C
ENST00000464642.5:c.52T>C	ENSP00000425233.1:p.Cys18Arg
ENST00000473378.1:c.121T>C	ENSP00000423601.1:p.Cys41Arg
ENST00000487883.1:c.148T>C	ENSP00000423966.1:p.Cys50Arg
ENST00000512747.3:n.251T>C
NM_000206.2:c.184T>C , LRG_150t1:c.184T>C	NP_000197.1:p.Cys62Arg
NM_000206.3:c.184T>C MANE Select	NP_000197.1:p.Cys62Arg