Canonical Allele Identifier: CA16621483
Gene: IL2RG HGNC NCBI

Linked Data

ClinVar Variation Id: 420678
ClinVar RCV Id: RCV000483465
dbSNP Id: rs1064794631

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71107866T>C , CM000685.2:g.71107866T>C GRCh38
NC_000023.10:g.70327716T>C , CM000685.1:g.70327716T>C GRCh37
NC_000023.9:g.70244441T>C NCBI36
NG_009088.1:g.8688A>G , LRG_150:g.8688A>G
NG_021141.1:g.3923A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000482750.6:c.*100A>G ENSP00000421262.2:n.*100A>G
ENST00000696903.1:n.1283A>G
ENST00000374202.7:c.980A>G MANE Select ENSP00000363318.3:p.Glu327Gly
ENST00000642473.1:n.1288+411A>G
ENST00000644022.1:n.1190+411A>G
ENST00000644708.1:n.1289A>G
ENST00000644911.1:n.1386A>G
ENST00000645266.1:c.924+411A>G ENSP00000493734.1:n.924+411A>G
ENST00000645518.1:c.924+411A>G ENSP00000493986.1:n.924+411A>G
ENST00000646106.1:c.980A>G ENSP00000496437.1:p.Glu327Gly
ENST00000646505.1:c.924+411A>G ENSP00000496673.1:n.924+411A>G
ENST00000647492.1:c.924+411A>G ENSP00000495340.1:n.924+411A>G
ENST00000276110.6:n.1573A>G
ENST00000374188.7:c.167A>G ENSP00000363303.3:p.Glu56Gly
ENST00000374202.6:c.980A>G ENSP00000363318.2:p.Glu327Gly
ENST00000456850.6:c.410A>G ENSP00000388967.2:p.Glu137Gly
ENST00000482750.5:c.296A>G
ENST00000512747.3:n.1514A>G
NM_000206.2:c.980A>G , LRG_150t1:c.980A>G NP_000197.1:p.Glu327Gly
NM_000206.3:c.980A>G MANE Select NP_000197.1:p.Glu327Gly