Canonical Allele Identifier: CA10443887
Gene: IL2RG HGNC NCBI

Linked Data

ClinVar Variation Id: 795305
ClinVar RCV Id: RCV000978621
dbSNP Id: rs778229878
ExAC: X:70330476 A / G
gnomAD v2: X-70330476-A-G
gnomAD v3: X-71110626-A-G
gnomAD v4: X-71110626-A-G
MyVariant Identifiers: chrX:g.70330476A>G (hg19) chrX:g.71110626A>G (hg38)
ERepo: CA10443887/MONDO:0010315/129
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71110626A>G , CM000685.2:g.71110626A>G GRCh38
NC_000023.10:g.70330476A>G , CM000685.1:g.70330476A>G GRCh37
NC_000023.9:g.70247201A>G NCBI36
NG_009088.1:g.5928T>C , LRG_150:g.5928T>C
NG_021141.1:g.1163T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000482750.6:c.332T>C ENSP00000421262.2:p.Ile111Thr
ENST00000696903.1:n.383T>C
ENST00000374202.7:c.332T>C MANE Select ENSP00000363318.3:p.Ile111Thr
ENST00000642473.1:n.696T>C
ENST00000644022.1:n.738T>C
ENST00000644708.1:n.738T>C
ENST00000644911.1:n.738T>C
ENST00000645266.1:c.332T>C ENSP00000493734.1:p.Ile111Thr
ENST00000645518.1:c.332T>C ENSP00000493986.1:p.Ile111Thr
ENST00000646106.1:c.332T>C ENSP00000496437.1:p.Ile111Thr
ENST00000646505.1:c.332T>C ENSP00000496673.1:p.Ile111Thr
ENST00000647492.1:c.332T>C ENSP00000495340.1:p.Ile111Thr
ENST00000276110.6:n.717T>C
ENST00000374188.7:c.-385T>C ENSP00000363303.3:n.-385T>C
ENST00000374202.6:c.332T>C ENSP00000363318.2:p.Ile111Thr
ENST00000456850.6:c.24+799T>C ENSP00000388967.2:n.24+799T>C
ENST00000464642.5:c.200T>C ENSP00000425233.1:p.Ile67Thr
ENST00000473378.1:c.269T>C ENSP00000423601.1:p.Ile90Thr
ENST00000487883.1:c.296T>C ENSP00000423966.1:p.Ile99Thr
ENST00000512747.3:n.399T>C
NM_000206.2:c.332T>C , LRG_150t1:c.332T>C NP_000197.1:p.Ile111Thr
NM_000206.3:c.332T>C MANE Select NP_000197.1:p.Ile111Thr
Search 100 bp 5'
Search 100 bp 3'