Canonical Allele Identifier: CA516818609

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 2894526
• ClinVar RCV Id: RCV003623851
• dbSNP Id: rs2092262439
• MyVariant Identifiers: chrX:g.70330812C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110962C>T , CM000685.2:g.71110962C>T	GRCh38
NC_000023.10:g.70330812C>T , CM000685.1:g.70330812C>T	GRCh37
NC_000023.9:g.70247537C>T	NCBI36
NG_009088.1:g.5592G>A , LRG_150:g.5592G>A
NG_021141.1:g.827G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.204G>A	ENSP00000421262.2:p.Glu68=
ENST00000696903.1:n.255G>A
ENST00000374202.7:c.204G>A MANE Select	ENSP00000363318.3:p.Glu68=
ENST00000642473.1:n.568G>A
ENST00000644022.1:n.610G>A
ENST00000644708.1:n.610G>A
ENST00000644911.1:n.610G>A
ENST00000645266.1:c.204G>A	ENSP00000493734.1:p.Glu68=
ENST00000645518.1:c.204G>A	ENSP00000493986.1:p.Glu68=
ENST00000646106.1:c.204G>A	ENSP00000496437.1:p.Glu68=
ENST00000646505.1:c.204G>A	ENSP00000496673.1:p.Glu68=
ENST00000647492.1:c.204G>A	ENSP00000495340.1:p.Glu68=
ENST00000276110.6:n.589G>A
ENST00000374188.7:c.-513G>A	ENSP00000363303.3:n.-513G>A
ENST00000374202.6:c.204G>A	ENSP00000363318.2:p.Glu68=
ENST00000456850.6:c.24+463G>A	ENSP00000388967.2:n.24+463G>A
ENST00000464642.5:c.72G>A	ENSP00000425233.1:p.Glu24=
ENST00000473378.1:c.141G>A	ENSP00000423601.1:p.Glu47=
ENST00000487883.1:c.168G>A	ENSP00000423966.1:p.Glu56=
ENST00000512747.3:n.271G>A
NM_000206.2:c.204G>A , LRG_150t1:c.204G>A	NP_000197.1:p.Glu68=
NM_000206.3:c.204G>A MANE Select	NP_000197.1:p.Glu68=