Canonical Allele Identifier: CA16608976

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 379561
• ClinVar RCV Id: RCV000427716 ; RCV000638843 ; RCV001253325
• dbSNP Id: rs1057520644
• MyVariant Identifiers: chrX:g.70330814C>T (hg19) ; chrX:g.71110964C>T (hg38)
• ERepo: CA16608976/MONDO:0010315/129

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110964C>T , CM000685.2:g.71110964C>T	GRCh38
NC_000023.10:g.70330814C>T , CM000685.1:g.70330814C>T	GRCh37
NC_000023.9:g.70247539C>T	NCBI36
NG_009088.1:g.5590G>A , LRG_150:g.5590G>A
NG_021141.1:g.825G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000482750.6:c.202G>A	ENSP00000421262.2:p.Glu68Lys
ENST00000696903.1:n.253G>A
ENST00000374202.7:c.202G>A MANE Select	ENSP00000363318.3:p.Glu68Lys
ENST00000642473.1:n.566G>A
ENST00000644022.1:n.608G>A
ENST00000644708.1:n.608G>A
ENST00000644911.1:n.608G>A
ENST00000645266.1:c.202G>A	ENSP00000493734.1:p.Glu68Lys
ENST00000645518.1:c.202G>A	ENSP00000493986.1:p.Glu68Lys
ENST00000646106.1:c.202G>A	ENSP00000496437.1:p.Glu68Lys
ENST00000646505.1:c.202G>A	ENSP00000496673.1:p.Glu68Lys
ENST00000647492.1:c.202G>A	ENSP00000495340.1:p.Glu68Lys
ENST00000276110.6:n.587G>A
ENST00000374188.7:c.-515G>A	ENSP00000363303.3:n.-515G>A
ENST00000374202.6:c.202G>A	ENSP00000363318.2:p.Glu68Lys
ENST00000456850.6:c.24+461G>A	ENSP00000388967.2:n.24+461G>A
ENST00000464642.5:c.70G>A	ENSP00000425233.1:p.Glu24Lys
ENST00000473378.1:c.139G>A	ENSP00000423601.1:p.Glu47Lys
ENST00000487883.1:c.166G>A	ENSP00000423966.1:p.Glu56Lys
ENST00000512747.3:n.269G>A
NM_000206.2:c.202G>A , LRG_150t1:c.202G>A	NP_000197.1:p.Glu68Lys
NM_000206.3:c.202G>A MANE Select	NP_000197.1:p.Glu68Lys