Canonical Allele Identifier: CA645373305

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 431930
• ClinVar RCV Id: RCV000498292
• dbSNP Id: rs1556330963
• MyVariant Identifiers: chrX:g.70330805_70330809dup (hg19) ; chrX:g.71110955_71110959dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110956_71110960dup , CM000685.2:g.71110956_71110960dup	GRCh38
NC_000023.10:g.70330806_70330810dup , CM000685.1:g.70330806_70330810dup	GRCh37
NC_000023.9:g.70247531_70247535dup	NCBI36
NG_009088.1:g.5595_5599dup , LRG_150:g.5595_5599dup
NG_021141.1:g.830_834dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.207_211dup	ENSP00000421262.2:p.Asn71ThrfsTer2
ENST00000696903.1:n.258_262dup
ENST00000374202.7:c.207_211dup MANE Select	ENSP00000363318.3:p.Asn71ThrfsTer2
ENST00000642473.1:n.571_575dup
ENST00000644022.1:n.613_617dup
ENST00000644708.1:n.613_617dup
ENST00000644911.1:n.613_617dup
ENST00000645266.1:c.207_211dup	ENSP00000493734.1:p.Asn71ThrfsTer2
ENST00000645518.1:c.207_211dup	ENSP00000493986.1:p.Asn71ThrfsTer2
ENST00000646106.1:c.207_211dup	ENSP00000496437.1:p.Asn71ThrfsTer2
ENST00000646505.1:c.207_211dup	ENSP00000496673.1:p.Asn71ThrfsTer2
ENST00000647492.1:c.207_211dup	ENSP00000495340.1:p.Asn71ThrfsTer2
ENST00000276110.6:n.592_596dup
ENST00000374188.7:c.-510_-506dup	ENSP00000363303.3:n.-510_-506dup
ENST00000374202.6:c.207_211dup	ENSP00000363318.2:p.Asn71ThrfsTer2
ENST00000456850.6:c.24+466_24+470dup	ENSP00000388967.2:n.24+466_24+470dup
ENST00000464642.5:c.75_79dup	ENSP00000425233.1:p.Asn27ThrfsTer2
ENST00000473378.1:c.144_148dup	ENSP00000423601.1:p.Asn50ThrfsTer2
ENST00000487883.1:c.171_175dup	ENSP00000423966.1:p.Asn59ThrfsTer2
ENST00000512747.3:n.274_278dup
NM_000206.2:c.207_211dup , LRG_150t1:c.207_211dup	NP_000197.1:p.Asn71ThrfsTer2
NM_000206.3:c.207_211dup MANE Select	NP_000197.1:p.Asn71ThrfsTer2