Canonical Allele Identifier: CA16043330
Gene: IL2RG HGNC NCBI

Linked Data

ClinVar Variation Id: 372730
ClinVar RCV Id: RCV000413285
dbSNP Id: rs1057517950
MyVariant Identifiers: chrX:g.70329117A>G (hg19) chrX:g.71109267A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71109267A>G , CM000685.2:g.71109267A>G GRCh38
NC_000023.10:g.70329117A>G , CM000685.1:g.70329117A>G GRCh37
NC_000023.9:g.70245842A>G NCBI36
NG_009088.1:g.7287T>C , LRG_150:g.7287T>C
NG_021141.1:g.2522T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000482750.6:c.718T>C ENSP00000421262.2:p.Trp240Arg
ENST00000696903.1:n.769T>C
ENST00000374202.7:c.718T>C MANE Select ENSP00000363318.3:p.Trp240Arg
ENST00000642473.1:n.1082T>C
ENST00000644022.1:n.984T>C
ENST00000644708.1:n.1124T>C
ENST00000644911.1:n.1124T>C
ENST00000645266.1:c.718T>C ENSP00000493734.1:p.Trp240Arg
ENST00000645518.1:c.718T>C ENSP00000493986.1:p.Trp240Arg
ENST00000646106.1:c.718T>C ENSP00000496437.1:p.Trp240Arg
ENST00000646505.1:c.718T>C ENSP00000496673.1:p.Trp240Arg
ENST00000647492.1:c.718T>C ENSP00000495340.1:p.Trp240Arg
ENST00000276110.6:n.1311T>C
ENST00000374188.7:c.2T>C ENSP00000363303.3:p.Met1Thr
ENST00000374202.6:c.718T>C ENSP00000363318.2:p.Trp240Arg
ENST00000456850.6:c.148T>C ENSP00000388967.2:p.Trp50Arg
ENST00000464642.5:c.586T>C ENSP00000425233.1:p.Trp196Arg
ENST00000482750.5:c.131T>C
ENST00000512747.3:n.645T>C
NM_000206.2:c.718T>C , LRG_150t1:c.718T>C NP_000197.1:p.Trp240Arg
NM_000206.3:c.718T>C MANE Select NP_000197.1:p.Trp240Arg
Search 100 bp 5'
Search 100 bp 3'