Canonical Allele Identifier: CA358784
Gene: IL2RG HGNC NCBI

Linked Data

ClinVar Variation Id: 225195
dbSNP Id: rs869320659

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71109309G>A , CM000685.2:g.71109309G>A GRCh38
NC_000023.10:g.70329159G>A , CM000685.1:g.70329159G>A GRCh37
NC_000023.9:g.70245884G>A NCBI36
NG_009088.1:g.7245C>T , LRG_150:g.7245C>T
NG_021141.1:g.2480C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000482750.6:c.676C>T ENSP00000421262.2:p.Arg226Cys
ENST00000696903.1:n.727C>T
ENST00000374202.7:c.676C>T MANE Select ENSP00000363318.3:p.Arg226Cys
ENST00000642473.1:n.1040C>T
ENST00000644022.1:n.942C>T
ENST00000644708.1:n.1082C>T
ENST00000644911.1:n.1082C>T
ENST00000645266.1:c.676C>T ENSP00000493734.1:p.Arg226Cys
ENST00000645518.1:c.676C>T ENSP00000493986.1:p.Arg226Cys
ENST00000646106.1:c.676C>T ENSP00000496437.1:p.Arg226Cys
ENST00000646505.1:c.676C>T ENSP00000496673.1:p.Arg226Cys
ENST00000647492.1:c.676C>T ENSP00000495340.1:p.Arg226Cys
ENST00000276110.6:n.1269C>T
ENST00000374188.7:c.-41C>T ENSP00000363303.3:n.-41C>T
ENST00000374202.6:c.676C>T ENSP00000363318.2:p.Arg226Cys
ENST00000456850.6:c.106C>T ENSP00000388967.2:p.Arg36Cys
ENST00000464642.5:c.544C>T ENSP00000425233.1:p.Arg182Cys
ENST00000482750.5:c.89C>T
ENST00000512747.3:n.603C>T
NM_000206.2:c.676C>T , LRG_150t1:c.676C>T NP_000197.1:p.Arg226Cys
NM_000206.3:c.676C>T MANE Select NP_000197.1:p.Arg226Cys