Canonical Allele Identifier: CA16621486
Gene: IL2RG HGNC NCBI

Linked Data

ClinVar Variation Id: 418645
ClinVar RCV Id: RCV000482132
dbSNP Id: rs1064793338
MyVariant Identifiers: chrX:g.70330480del (hg19) chrX:g.71110630del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71110630del , CM000685.2:g.71110630del GRCh38
NC_000023.10:g.70330480del , CM000685.1:g.70330480del GRCh37
NC_000023.9:g.70247205del NCBI36
NG_009088.1:g.5924del , LRG_150:g.5924del
NG_021141.1:g.1159del

Transcript Alleles

HGVS Amino-acid change
ENST00000482750.6:c.328del ENSP00000421262.2:p.Glu110LysfsTer?
ENST00000696903.1:n.379del
ENST00000374202.7:c.328del MANE Select ENSP00000363318.3:p.Glu110LysfsTer?
ENST00000642473.1:n.692del
ENST00000644022.1:n.734del
ENST00000644708.1:n.734del
ENST00000644911.1:n.734del
ENST00000645266.1:c.328del ENSP00000493734.1:p.Glu110LysfsTer?
ENST00000645518.1:c.328del ENSP00000493986.1:p.Glu110LysfsTer?
ENST00000646106.1:c.328del ENSP00000496437.1:p.Glu110LysfsTer?
ENST00000646505.1:c.328del ENSP00000496673.1:p.Glu110LysfsTer?
ENST00000647492.1:c.328del ENSP00000495340.1:p.Glu110LysfsTer?
ENST00000276110.6:n.713del
ENST00000374188.7:c.-389del ENSP00000363303.3:n.-389del
ENST00000374202.6:c.328del ENSP00000363318.2:p.Glu110LysfsTer?
ENST00000456850.6:c.24+795del ENSP00000388967.2:n.24+795del
ENST00000464642.5:c.196del ENSP00000425233.1:p.Glu66LysfsTer?
ENST00000473378.1:c.265del ENSP00000423601.1:p.Glu89LysfsTer?
ENST00000487883.1:c.292del ENSP00000423966.1:p.Glu98LysfsTer?
ENST00000512747.3:n.395del
NM_000206.2:c.328del , LRG_150t1:c.328del NP_000197.1:p.Glu110LysfsTer?
NM_000206.3:c.328del MANE Select NP_000197.1:p.Glu110LysfsTer?
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