Canonical Allele Identifier: CA413495887
Gene: IL2RG HGNC NCBI

Linked Data

ClinVar Variation Id: 463384
ClinVar RCV Id: RCV000538891
dbSNP Id: rs1556330234
MyVariant Identifiers: chrX:g.70329115C>T (hg19) chrX:g.71109265C>T (hg38)
ERepo: CA413495887/MONDO:0010315/129
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71109265C>T , CM000685.2:g.71109265C>T GRCh38
NC_000023.10:g.70329115C>T , CM000685.1:g.70329115C>T GRCh37
NC_000023.9:g.70245840C>T NCBI36
NG_009088.1:g.7289G>A , LRG_150:g.7289G>A
NG_021141.1:g.2524G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000482750.6:c.720G>A ENSP00000421262.2:p.Trp240Ter
ENST00000696903.1:n.771G>A
ENST00000374202.7:c.720G>A MANE Select ENSP00000363318.3:p.Trp240Ter
ENST00000642473.1:n.1084G>A
ENST00000644022.1:n.986G>A
ENST00000644708.1:n.1126G>A
ENST00000644911.1:n.1126G>A
ENST00000645266.1:c.720G>A ENSP00000493734.1:p.Trp240Ter
ENST00000645518.1:c.720G>A ENSP00000493986.1:p.Trp240Ter
ENST00000646106.1:c.720G>A ENSP00000496437.1:p.Trp240Ter
ENST00000646505.1:c.720G>A ENSP00000496673.1:p.Trp240Ter
ENST00000647492.1:c.720G>A ENSP00000495340.1:p.Trp240Ter
ENST00000276110.6:n.1313G>A
ENST00000374188.7:c.4G>A ENSP00000363303.3:p.Glu2Lys
ENST00000374202.6:c.720G>A ENSP00000363318.2:p.Trp240Ter
ENST00000456850.6:c.150G>A ENSP00000388967.2:p.Trp50Ter
ENST00000464642.5:c.588G>A ENSP00000425233.1:p.Trp196Ter
ENST00000482750.5:c.133G>A
ENST00000512747.3:n.647G>A
NM_000206.2:c.720G>A , LRG_150t1:c.720G>A NP_000197.1:p.Trp240Ter
NM_000206.3:c.720G>A MANE Select NP_000197.1:p.Trp240Ter
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