Canonical Allele Identifier: CA16043285
Gene: IL2RG HGNC NCBI

Linked Data

ClinVar Variation Id: 372386
dbSNP Id: rs1057517747

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71111497G>A , CM000685.2:g.71111497G>A GRCh38
NC_000023.10:g.70331347G>A , CM000685.1:g.70331347G>A GRCh37
NC_000023.9:g.70248072G>A NCBI36
NG_009088.1:g.5057C>T , LRG_150:g.5057C>T
NG_021141.1:g.292C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000482750.6:c.43C>T ENSP00000421262.2:p.Gln15Ter
ENST00000696903.1:n.94C>T
ENST00000374202.7:c.43C>T MANE Select ENSP00000363318.3:p.Gln15Ter
ENST00000642473.1:n.33C>T
ENST00000644022.1:n.75C>T
ENST00000644708.1:n.75C>T
ENST00000644911.1:n.75C>T
ENST00000645266.1:c.43C>T ENSP00000493734.1:p.Gln15Ter
ENST00000645518.1:c.43C>T ENSP00000493986.1:p.Gln15Ter
ENST00000646106.1:c.43C>T ENSP00000496437.1:p.Gln15Ter
ENST00000646505.1:c.43C>T ENSP00000496673.1:p.Gln15Ter
ENST00000647492.1:c.43C>T ENSP00000495340.1:p.Gln15Ter
ENST00000276110.6:n.54C>T
ENST00000374188.7:c.-674C>T ENSP00000363303.3:n.-674C>T
ENST00000374202.6:c.43C>T ENSP00000363318.2:p.Gln15Ter
ENST00000464642.5:c.-87-3C>T ENSP00000425233.1:n.-87-3C>T
ENST00000473378.1:c.-49C>T ENSP00000423601.1:n.-49C>T
ENST00000487883.1:c.-368C>T ENSP00000423966.1:n.-368C>T
ENST00000512747.3:n.110C>T
NM_000206.2:c.43C>T , LRG_150t1:c.43C>T NP_000197.1:p.Gln15Ter
NM_000206.3:c.43C>T MANE Select NP_000197.1:p.Gln15Ter