This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA2501160015
Gene: IL2RG HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71109982T>A , CM000685.2:g.71109982T>A GRCh38
NC_000023.10:g.70329832T>A , CM000685.1:g.70329832T>A GRCh37
NC_000023.9:g.70246557T>A NCBI36
NG_009088.1:g.6572A>T , LRG_150:g.6572A>T
NG_021141.1:g.1807A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000482750.6:c.594+174A>T ENSP00000421262.2:n.594+174A>T
ENST00000696903.1:n.645+174A>T
ENST00000374202.7:c.594+174A>T MANE Select ENSP00000363318.3:n.594+174A>T
ENST00000642473.1:n.958+174A>T
ENST00000644022.1:n.860+522A>T
ENST00000644708.1:n.1000+174A>T
ENST00000644911.1:n.1000+174A>T
ENST00000645266.1:c.594+174A>T ENSP00000493734.1:n.594+174A>T
ENST00000645518.1:c.594+174A>T ENSP00000493986.1:n.594+174A>T
ENST00000646106.1:c.594+174A>T ENSP00000496437.1:n.594+174A>T
ENST00000646505.1:c.594+174A>T ENSP00000496673.1:n.594+174A>T
ENST00000647492.1:c.594+174A>T ENSP00000495340.1:n.594+174A>T
ENST00000276110.6:n.1187+174A>T
ENST00000374188.7:c.-123+174A>T ENSP00000363303.3:n.-123+174A>T
ENST00000374202.6:c.594+174A>T ENSP00000363318.2:n.594+174A>T
ENST00000456850.6:c.25-592A>T ENSP00000388967.2:n.25-592A>T
ENST00000464642.5:c.462+174A>T ENSP00000425233.1:n.462+174A>T
ENST00000482750.5:c.7+174A>T
ENST00000512747.3:n.521+522A>T
NM_000206.2:c.594+174A>T , LRG_150t1:c.594+174A>T NP_000197.1:n.594+174A>T
NM_000206.3:c.594+174A>T MANE Select NP_000197.1:n.594+174A>T
Search 100 bp 5'
Search 100 bp 3'