Canonical Allele Identifier: CA413496512
Gene: IL2RG HGNC NCBI

Linked Data

ClinVar Variation Id: 3066454
ClinVar RCV Id: RCV003991493
MyVariant Identifiers: chrX:g.70330147T>A (hg19) chrX:g.71110297T>A (hg38)
ERepo: CA413496512/MONDO:0010315/129
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71110297T>A , CM000685.2:g.71110297T>A GRCh38
NC_000023.10:g.70330147T>A , CM000685.1:g.70330147T>A GRCh37
NC_000023.9:g.70246872T>A NCBI36
NG_009088.1:g.6257A>T , LRG_150:g.6257A>T
NG_021141.1:g.1492A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000482750.6:c.455-2A>T ENSP00000421262.2:n.455-2A>T
ENST00000696903.1:n.506-2A>T
ENST00000374202.7:c.455-2A>T MANE Select ENSP00000363318.3:n.455-2A>T
ENST00000642473.1:n.819-2A>T
ENST00000644022.1:n.860+207A>T
ENST00000644708.1:n.861-2A>T
ENST00000644911.1:n.861-2A>T
ENST00000645266.1:c.455-2A>T ENSP00000493734.1:n.455-2A>T
ENST00000645518.1:c.455-2A>T ENSP00000493986.1:n.455-2A>T
ENST00000646106.1:c.455-2A>T ENSP00000496437.1:n.455-2A>T
ENST00000646505.1:c.455-2A>T ENSP00000496673.1:n.455-2A>T
ENST00000647492.1:c.455-2A>T ENSP00000495340.1:n.455-2A>T
ENST00000276110.6:n.1046A>T
ENST00000374188.7:c.-262-2A>T ENSP00000363303.3:n.-262-2A>T
ENST00000374202.6:c.455-2A>T ENSP00000363318.2:n.455-2A>T
ENST00000456850.6:c.25-907A>T ENSP00000388967.2:n.25-907A>T
ENST00000464642.5:c.323-2A>T ENSP00000425233.1:n.323-2A>T
ENST00000487883.1:c.419-2A>T ENSP00000423966.1:n.419-2A>T
ENST00000512747.3:n.521+207A>T
NM_000206.2:c.455-2A>T , LRG_150t1:c.455-2A>T NP_000197.1:n.455-2A>T
NM_000206.3:c.455-2A>T MANE Select NP_000197.1:n.455-2A>T
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