Canonical Allele Identifier: CA413496034
Gene: IL2RG HGNC NCBI

Linked Data

ClinVar Variation Id: 1172577
ClinVar RCV Id: RCV001526496
dbSNP Id: rs2147748284
MyVariant Identifiers: chrX:g.70329180A>G (hg19) chrX:g.71109330A>G (hg38)
ERepo: CA413496034/MONDO:0010315/129
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71109330A>G , CM000685.2:g.71109330A>G GRCh38
NC_000023.10:g.70329180A>G , CM000685.1:g.70329180A>G GRCh37
NC_000023.9:g.70245905A>G NCBI36
NG_009088.1:g.7224T>C , LRG_150:g.7224T>C
NG_021141.1:g.2459T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000482750.6:c.655T>C ENSP00000421262.2:p.Tyr219His
ENST00000696903.1:n.706T>C
ENST00000374202.7:c.655T>C MANE Select ENSP00000363318.3:p.Tyr219His
ENST00000642473.1:n.1019T>C
ENST00000644022.1:n.921T>C
ENST00000644708.1:n.1061T>C
ENST00000644911.1:n.1061T>C
ENST00000645266.1:c.655T>C ENSP00000493734.1:p.Tyr219His
ENST00000645518.1:c.655T>C ENSP00000493986.1:p.Tyr219His
ENST00000646106.1:c.655T>C ENSP00000496437.1:p.Tyr219His
ENST00000646505.1:c.655T>C ENSP00000496673.1:p.Tyr219His
ENST00000647492.1:c.655T>C ENSP00000495340.1:p.Tyr219His
ENST00000276110.6:n.1248T>C
ENST00000374188.7:c.-62T>C ENSP00000363303.3:n.-62T>C
ENST00000374202.6:c.655T>C ENSP00000363318.2:p.Tyr219His
ENST00000456850.6:c.85T>C ENSP00000388967.2:p.Tyr29His
ENST00000464642.5:c.523T>C ENSP00000425233.1:p.Tyr175His
ENST00000482750.5:c.68T>C
ENST00000512747.3:n.582T>C
NM_000206.2:c.655T>C , LRG_150t1:c.655T>C NP_000197.1:p.Tyr219His
NM_000206.3:c.655T>C MANE Select NP_000197.1:p.Tyr219His
Search 100 bp 5'
Search 100 bp 3'