Canonical Allele Identifier: CA254994
Gene: IL2RG HGNC NCBI

Linked Data

ClinVar Variation Id: 10028
ClinVar RCV Id: RCV000010711
dbSNP Id: rs137852511
MyVariant Identifiers: chrX:g.70330356A>G (hg19) chrX:g.71110506A>G (hg38)
PubMed: PMID:8900089 PMID:18728247
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71110506A>G , CM000685.2:g.71110506A>G GRCh38
NC_000023.10:g.70330356A>G , CM000685.1:g.70330356A>G GRCh37
NC_000023.9:g.70247081A>G NCBI36
NG_009088.1:g.6048T>C , LRG_150:g.6048T>C
NG_021141.1:g.1283T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000482750.6:c.452T>C ENSP00000421262.2:p.Leu151Pro
ENST00000696903.1:n.503T>C
ENST00000374202.7:c.452T>C MANE Select ENSP00000363318.3:p.Leu151Pro
ENST00000642473.1:n.816T>C
ENST00000644022.1:n.858T>C
ENST00000644708.1:n.858T>C
ENST00000644911.1:n.858T>C
ENST00000645266.1:c.452T>C ENSP00000493734.1:p.Leu151Pro
ENST00000645518.1:c.452T>C ENSP00000493986.1:p.Leu151Pro
ENST00000646106.1:c.452T>C ENSP00000496437.1:p.Leu151Pro
ENST00000646505.1:c.452T>C ENSP00000496673.1:p.Leu151Pro
ENST00000647492.1:c.452T>C ENSP00000495340.1:p.Leu151Pro
ENST00000276110.6:n.837T>C
ENST00000374188.7:c.-265T>C ENSP00000363303.3:n.-265T>C
ENST00000374202.6:c.452T>C ENSP00000363318.2:p.Leu151Pro
ENST00000456850.6:c.24+919T>C ENSP00000388967.2:n.24+919T>C
ENST00000464642.5:c.320T>C ENSP00000425233.1:p.Leu107Pro
ENST00000487883.1:c.416T>C ENSP00000423966.1:p.Leu139Pro
ENST00000512747.3:n.519T>C
NM_000206.2:c.452T>C , LRG_150t1:c.452T>C NP_000197.1:p.Leu151Pro
NM_000206.3:c.452T>C MANE Select NP_000197.1:p.Leu151Pro
Search 100 bp 5'
Search 100 bp 3'