Canonical Allele Identifier: CA358778
Gene: IL2RG HGNC NCBI

Linked Data

ClinVar Variation Id: 225194
dbSNP Id: rs869320658

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71109315G>A , CM000685.2:g.71109315G>A GRCh38
NC_000023.10:g.70329165G>A , CM000685.1:g.70329165G>A GRCh37
NC_000023.9:g.70245890G>A NCBI36
NG_009088.1:g.7239C>T , LRG_150:g.7239C>T
NG_021141.1:g.2474C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000482750.6:c.670C>T ENSP00000421262.2:p.Arg224Trp
ENST00000696903.1:n.721C>T
ENST00000374202.7:c.670C>T MANE Select ENSP00000363318.3:p.Arg224Trp
ENST00000642473.1:n.1034C>T
ENST00000644022.1:n.936C>T
ENST00000644708.1:n.1076C>T
ENST00000644911.1:n.1076C>T
ENST00000645266.1:c.670C>T ENSP00000493734.1:p.Arg224Trp
ENST00000645518.1:c.670C>T ENSP00000493986.1:p.Arg224Trp
ENST00000646106.1:c.670C>T ENSP00000496437.1:p.Arg224Trp
ENST00000646505.1:c.670C>T ENSP00000496673.1:p.Arg224Trp
ENST00000647492.1:c.670C>T ENSP00000495340.1:p.Arg224Trp
ENST00000276110.6:n.1263C>T
ENST00000374188.7:c.-47C>T ENSP00000363303.3:n.-47C>T
ENST00000374202.6:c.670C>T ENSP00000363318.2:p.Arg224Trp
ENST00000456850.6:c.100C>T ENSP00000388967.2:p.Arg34Trp
ENST00000464642.5:c.538C>T ENSP00000425233.1:p.Arg180Trp
ENST00000482750.5:c.83C>T
ENST00000512747.3:n.597C>T
NM_000206.2:c.670C>T , LRG_150t1:c.670C>T NP_000197.1:p.Arg224Trp
NM_000206.3:c.670C>T MANE Select NP_000197.1:p.Arg224Trp