Canonical Allele Identifier: CA16621482

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 418656
• ClinVar RCV Id: RCV000483975 ; RCV000586219 ; RCV001090163
• dbSNP Id: rs1064793347
• MyVariant Identifiers: chrX:g.70327714G>A (hg19) ; chrX:g.71107864G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71107864G>A , CM000685.2:g.71107864G>A	GRCh38
NC_000023.10:g.70327714G>A , CM000685.1:g.70327714G>A	GRCh37
NC_000023.9:g.70244439G>A	NCBI36
NG_009088.1:g.8690C>T , LRG_150:g.8690C>T
NG_021141.1:g.3925C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000482750.6:c.*102C>T	ENSP00000421262.2:n.*102C>T
ENST00000696903.1:n.1285C>T
ENST00000374202.7:c.982C>T MANE Select	ENSP00000363318.3:p.Arg328Ter
ENST00000642473.1:n.1288+413C>T
ENST00000644022.1:n.1190+413C>T
ENST00000644708.1:n.1291C>T
ENST00000644911.1:n.1388C>T
ENST00000645266.1:c.924+413C>T	ENSP00000493734.1:n.924+413C>T
ENST00000645518.1:c.924+413C>T	ENSP00000493986.1:n.924+413C>T
ENST00000646106.1:c.982C>T	ENSP00000496437.1:p.Arg328Ter
ENST00000646505.1:c.924+413C>T	ENSP00000496673.1:n.924+413C>T
ENST00000647492.1:c.924+413C>T	ENSP00000495340.1:n.924+413C>T
ENST00000276110.6:n.1575C>T
ENST00000374188.7:c.169C>T	ENSP00000363303.3:p.Arg57Ter
ENST00000374202.6:c.982C>T	ENSP00000363318.2:p.Arg328Ter
ENST00000456850.6:c.412C>T	ENSP00000388967.2:p.Arg138Ter
ENST00000482750.5:c.298C>T
ENST00000512747.3:n.1516C>T
NM_000206.2:c.982C>T , LRG_150t1:c.982C>T	NP_000197.1:p.Arg328Ter
NM_000206.3:c.982C>T MANE Select	NP_000197.1:p.Arg328Ter