Canonical Allele Identifier: CA413496165

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 1355530
• ClinVar RCV Id: RCV001866960
• dbSNP Id: rs2147748363
• MyVariant Identifiers: chrX:g.70329237G>A (hg19) ; chrX:g.71109387G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71109387G>A , CM000685.2:g.71109387G>A	GRCh38
NC_000023.10:g.70329237G>A , CM000685.1:g.70329237G>A	GRCh37
NC_000023.9:g.70245962G>A	NCBI36
NG_009088.1:g.7167C>T , LRG_150:g.7167C>T
NG_021141.1:g.2402C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.598C>T	ENSP00000421262.2:p.Gln200Ter
ENST00000696903.1:n.649C>T
ENST00000374202.7:c.598C>T MANE Select	ENSP00000363318.3:p.Gln200Ter
ENST00000642473.1:n.962C>T
ENST00000644022.1:n.864C>T
ENST00000644708.1:n.1004C>T
ENST00000644911.1:n.1004C>T
ENST00000645266.1:c.598C>T	ENSP00000493734.1:p.Gln200Ter
ENST00000645518.1:c.598C>T	ENSP00000493986.1:p.Gln200Ter
ENST00000646106.1:c.598C>T	ENSP00000496437.1:p.Gln200Ter
ENST00000646505.1:c.598C>T	ENSP00000496673.1:p.Gln200Ter
ENST00000647492.1:c.598C>T	ENSP00000495340.1:p.Gln200Ter
ENST00000276110.6:n.1191C>T
ENST00000374188.7:c.-119C>T	ENSP00000363303.3:n.-119C>T
ENST00000374202.6:c.598C>T	ENSP00000363318.2:p.Gln200Ter
ENST00000456850.6:c.28C>T	ENSP00000388967.2:p.Gln10Ter
ENST00000464642.5:c.466C>T	ENSP00000425233.1:p.Gln156Ter
ENST00000482750.5:c.11C>T
ENST00000512747.3:n.525C>T
NM_000206.2:c.598C>T , LRG_150t1:c.598C>T	NP_000197.1:p.Gln200Ter
NM_000206.3:c.598C>T MANE Select	NP_000197.1:p.Gln200Ter