Canonical Allele Identifier: CA10443891
Gene: IL2RG HGNC NCBI

Linked Data

ClinVar Variation Id: 804024
ClinVar RCV Id: RCV000990860
dbSNP Id: rs776710796
ExAC: X:70330516 T / C
gnomAD v2: X-70330516-T-C
gnomAD v3: X-71110666-T-C
gnomAD v4: X-71110666-T-C
MyVariant Identifiers: chrX:g.70330516T>C (hg19) chrX:g.71110666T>C (hg38)
ERepo: CA10443891/MONDO:0010315/129
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71110666T>C , CM000685.2:g.71110666T>C GRCh38
NC_000023.10:g.70330516T>C , CM000685.1:g.70330516T>C GRCh37
NC_000023.9:g.70247241T>C NCBI36
NG_009088.1:g.5888A>G , LRG_150:g.5888A>G
NG_021141.1:g.1123A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000482750.6:c.292A>G ENSP00000421262.2:p.Lys98Glu
ENST00000696903.1:n.343A>G
ENST00000374202.7:c.292A>G MANE Select ENSP00000363318.3:p.Lys98Glu
ENST00000642473.1:n.656A>G
ENST00000644022.1:n.698A>G
ENST00000644708.1:n.698A>G
ENST00000644911.1:n.698A>G
ENST00000645266.1:c.292A>G ENSP00000493734.1:p.Lys98Glu
ENST00000645518.1:c.292A>G ENSP00000493986.1:p.Lys98Glu
ENST00000646106.1:c.292A>G ENSP00000496437.1:p.Lys98Glu
ENST00000646505.1:c.292A>G ENSP00000496673.1:p.Lys98Glu
ENST00000647492.1:c.292A>G ENSP00000495340.1:p.Lys98Glu
ENST00000276110.6:n.677A>G
ENST00000374188.7:c.-425A>G ENSP00000363303.3:n.-425A>G
ENST00000374202.6:c.292A>G ENSP00000363318.2:p.Lys98Glu
ENST00000456850.6:c.24+759A>G ENSP00000388967.2:n.24+759A>G
ENST00000464642.5:c.160A>G ENSP00000425233.1:p.Lys54Glu
ENST00000473378.1:c.229A>G ENSP00000423601.1:p.Lys77Glu
ENST00000487883.1:c.256A>G ENSP00000423966.1:p.Lys86Glu
ENST00000512747.3:n.359A>G
NM_000206.2:c.292A>G , LRG_150t1:c.292A>G NP_000197.1:p.Lys98Glu
NM_000206.3:c.292A>G MANE Select NP_000197.1:p.Lys98Glu
Search 100 bp 5'
Search 100 bp 3'