Canonical Allele Identifier: CA413497074
Gene: IL2RG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71110946A>G , CM000685.2:g.71110946A>G GRCh38
NC_000023.10:g.70330796A>G , CM000685.1:g.70330796A>G GRCh37
NC_000023.9:g.70247521A>G NCBI36
NG_009088.1:g.5608T>C , LRG_150:g.5608T>C
NG_021141.1:g.843T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000482750.6:c.220T>C ENSP00000421262.2:p.Trp74Arg
ENST00000696903.1:n.271T>C
ENST00000374202.7:c.220T>C MANE Select ENSP00000363318.3:p.Trp74Arg
ENST00000642473.1:n.584T>C
ENST00000644022.1:n.626T>C
ENST00000644708.1:n.626T>C
ENST00000644911.1:n.626T>C
ENST00000645266.1:c.220T>C ENSP00000493734.1:p.Trp74Arg
ENST00000645518.1:c.220T>C ENSP00000493986.1:p.Trp74Arg
ENST00000646106.1:c.220T>C ENSP00000496437.1:p.Trp74Arg
ENST00000646505.1:c.220T>C ENSP00000496673.1:p.Trp74Arg
ENST00000647492.1:c.220T>C ENSP00000495340.1:p.Trp74Arg
ENST00000276110.6:n.605T>C
ENST00000374188.7:c.-497T>C ENSP00000363303.3:n.-497T>C
ENST00000374202.6:c.220T>C ENSP00000363318.2:p.Trp74Arg
ENST00000456850.6:c.24+479T>C ENSP00000388967.2:n.24+479T>C
ENST00000464642.5:c.88T>C ENSP00000425233.1:p.Trp30Arg
ENST00000473378.1:c.157T>C ENSP00000423601.1:p.Trp53Arg
ENST00000487883.1:c.184T>C ENSP00000423966.1:p.Trp62Arg
ENST00000512747.3:n.287T>C
NM_000206.2:c.220T>C , LRG_150t1:c.220T>C NP_000197.1:p.Trp74Arg
NM_000206.3:c.220T>C MANE Select NP_000197.1:p.Trp74Arg