Canonical Allele Identifier: CA413495953
Gene: IL2RG HGNC NCBI

Linked Data

ClinVar Variation Id: 633274
ClinVar RCV Id: RCV000781478 RCV001856197
dbSNP Id: rs1569479909
MyVariant Identifiers: chrX:g.70329141C>T (hg19) chrX:g.71109291C>T (hg38)
ERepo: CA413495953/MONDO:0010315/129
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71109291C>T , CM000685.2:g.71109291C>T GRCh38
NC_000023.10:g.70329141C>T , CM000685.1:g.70329141C>T GRCh37
NC_000023.9:g.70245866C>T NCBI36
NG_009088.1:g.7263G>A , LRG_150:g.7263G>A
NG_021141.1:g.2498G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000482750.6:c.694G>A ENSP00000421262.2:p.Gly232Arg
ENST00000696903.1:n.745G>A
ENST00000374202.7:c.694G>A MANE Select ENSP00000363318.3:p.Gly232Arg
ENST00000642473.1:n.1058G>A
ENST00000644022.1:n.960G>A
ENST00000644708.1:n.1100G>A
ENST00000644911.1:n.1100G>A
ENST00000645266.1:c.694G>A ENSP00000493734.1:p.Gly232Arg
ENST00000645518.1:c.694G>A ENSP00000493986.1:p.Gly232Arg
ENST00000646106.1:c.694G>A ENSP00000496437.1:p.Gly232Arg
ENST00000646505.1:c.694G>A ENSP00000496673.1:p.Gly232Arg
ENST00000647492.1:c.694G>A ENSP00000495340.1:p.Gly232Arg
ENST00000276110.6:n.1287G>A
ENST00000374188.7:c.-23G>A ENSP00000363303.3:n.-23G>A
ENST00000374202.6:c.694G>A ENSP00000363318.2:p.Gly232Arg
ENST00000456850.6:c.124G>A ENSP00000388967.2:p.Gly42Arg
ENST00000464642.5:c.562G>A ENSP00000425233.1:p.Gly188Arg
ENST00000482750.5:c.107G>A
ENST00000512747.3:n.621G>A
NM_000206.2:c.694G>A , LRG_150t1:c.694G>A NP_000197.1:p.Gly232Arg
NM_000206.3:c.694G>A MANE Select NP_000197.1:p.Gly232Arg
Search 100 bp 5'
Search 100 bp 3'