Canonical Allele Identifier: CA16621485
Gene: IL2RG HGNC NCBI

Linked Data

ClinVar Variation Id: 418256
ClinVar RCV Id: RCV000480139 RCV002525762
dbSNP Id: rs1064793153
MyVariant Identifiers: chrX:g.70330140G>A (hg19) chrX:g.71110290G>A (hg38)
ERepo: CA16621485/MONDO:0010315/129
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71110290G>A , CM000685.2:g.71110290G>A GRCh38
NC_000023.10:g.70330140G>A , CM000685.1:g.70330140G>A GRCh37
NC_000023.9:g.70246865G>A NCBI36
NG_009088.1:g.6264C>T , LRG_150:g.6264C>T
NG_021141.1:g.1499C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000482750.6:c.460C>T ENSP00000421262.2:p.Pro154Ser
ENST00000696903.1:n.511C>T
ENST00000374202.7:c.460C>T MANE Select ENSP00000363318.3:p.Pro154Ser
ENST00000642473.1:n.824C>T
ENST00000644022.1:n.860+214C>T
ENST00000644708.1:n.866C>T
ENST00000644911.1:n.866C>T
ENST00000645266.1:c.460C>T ENSP00000493734.1:p.Pro154Ser
ENST00000645518.1:c.460C>T ENSP00000493986.1:p.Pro154Ser
ENST00000646106.1:c.460C>T ENSP00000496437.1:p.Pro154Ser
ENST00000646505.1:c.460C>T ENSP00000496673.1:p.Pro154Ser
ENST00000647492.1:c.460C>T ENSP00000495340.1:p.Pro154Ser
ENST00000276110.6:n.1053C>T
ENST00000374188.7:c.-257C>T ENSP00000363303.3:n.-257C>T
ENST00000374202.6:c.460C>T ENSP00000363318.2:p.Pro154Ser
ENST00000456850.6:c.25-900C>T ENSP00000388967.2:n.25-900C>T
ENST00000464642.5:c.328C>T ENSP00000425233.1:p.Pro110Ser
ENST00000487883.1:c.424C>T ENSP00000423966.1:p.Pro142Ser
ENST00000512747.3:n.521+214C>T
NM_000206.2:c.460C>T , LRG_150t1:c.460C>T NP_000197.1:p.Pro154Ser
NM_000206.3:c.460C>T MANE Select NP_000197.1:p.Pro154Ser
Search 100 bp 5'
Search 100 bp 3'