Canonical Allele Identifier: CA1139667633

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 981080
• ClinVar RCV Id: RCV001260353 ; RCV002274165
• dbSNP Id: rs2092261347

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110598_71110599insA , CM000685.2:g.71110598_71110599insA	GRCh38
NC_000023.10:g.70330448_70330449insA , CM000685.1:g.70330448_70330449insA	GRCh37
NC_000023.9:g.70247173_70247174insA	NCBI36
NG_009088.1:g.5955_5956insT , LRG_150:g.5955_5956insT
NG_021141.1:g.1190_1191insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.359_360insT	ENSP00000421262.2:p.Lys120AsnfsTer?
ENST00000696903.1:n.410_411insT
ENST00000374202.7:c.359_360insT MANE Select	ENSP00000363318.3:p.Lys120AsnfsTer?
ENST00000642473.1:n.723_724insT
ENST00000644022.1:n.765_766insT
ENST00000644708.1:n.765_766insT
ENST00000644911.1:n.765_766insT
ENST00000645266.1:c.359_360insT	ENSP00000493734.1:p.Lys120AsnfsTer?
ENST00000645518.1:c.359_360insT	ENSP00000493986.1:p.Lys120AsnfsTer?
ENST00000646106.1:c.359_360insT	ENSP00000496437.1:p.Lys120AsnfsTer?
ENST00000646505.1:c.359_360insT	ENSP00000496673.1:p.Lys120AsnfsTer?
ENST00000647492.1:c.359_360insT	ENSP00000495340.1:p.Lys120AsnfsTer?
ENST00000276110.6:n.744_745insT
ENST00000374188.7:c.-358_-357insT	ENSP00000363303.3:n.-358_-357insT
ENST00000374202.6:c.359_360insT	ENSP00000363318.2:p.Lys120AsnfsTer?
ENST00000456850.6:c.24+826_24+827insT	ENSP00000388967.2:n.24+826_24+827insT
ENST00000464642.5:c.227_228insT	ENSP00000425233.1:p.Lys76AsnfsTer?
ENST00000473378.1:c.296_297insT	ENSP00000423601.1:p.Lys99AsnfsTer?
ENST00000487883.1:c.323_324insT	ENSP00000423966.1:p.Lys108AsnfsTer?
ENST00000512747.3:n.426_427insT
NM_000206.2:c.359_360insT , LRG_150t1:c.359_360insT	NP_000197.1:p.Lys120AsnfsTer?
NM_000206.3:c.359_360insT MANE Select	NP_000197.1:p.Lys120AsnfsTer?