Canonical Allele Identifier: CA413497028

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 1398369
• ClinVar RCV Id: RCV001915015
• dbSNP Id: rs2147750896
• MyVariant Identifiers: chrX:g.70330778G>T (hg19) ; chrX:g.71110928G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110928G>T , CM000685.2:g.71110928G>T	GRCh38
NC_000023.10:g.70330778G>T , CM000685.1:g.70330778G>T	GRCh37
NC_000023.9:g.70247503G>T	NCBI36
NG_009088.1:g.5626C>A , LRG_150:g.5626C>A
NG_021141.1:g.861C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.238C>A	ENSP00000421262.2:p.Pro80Thr
ENST00000696903.1:n.289C>A
ENST00000374202.7:c.238C>A MANE Select	ENSP00000363318.3:p.Pro80Thr
ENST00000642473.1:n.602C>A
ENST00000644022.1:n.644C>A
ENST00000644708.1:n.644C>A
ENST00000644911.1:n.644C>A
ENST00000645266.1:c.238C>A	ENSP00000493734.1:p.Pro80Thr
ENST00000645518.1:c.238C>A	ENSP00000493986.1:p.Pro80Thr
ENST00000646106.1:c.238C>A	ENSP00000496437.1:p.Pro80Thr
ENST00000646505.1:c.238C>A	ENSP00000496673.1:p.Pro80Thr
ENST00000647492.1:c.238C>A	ENSP00000495340.1:p.Pro80Thr
ENST00000276110.6:n.623C>A
ENST00000374188.7:c.-479C>A	ENSP00000363303.3:n.-479C>A
ENST00000374202.6:c.238C>A	ENSP00000363318.2:p.Pro80Thr
ENST00000456850.6:c.24+497C>A	ENSP00000388967.2:n.24+497C>A
ENST00000464642.5:c.106C>A	ENSP00000425233.1:p.Pro36Thr
ENST00000473378.1:c.175C>A	ENSP00000423601.1:p.Pro59Thr
ENST00000487883.1:c.202C>A	ENSP00000423966.1:p.Pro68Thr
ENST00000512747.3:n.305C>A
NM_000206.2:c.238C>A , LRG_150t1:c.238C>A	NP_000197.1:p.Pro80Thr
NM_000206.3:c.238C>A MANE Select	NP_000197.1:p.Pro80Thr