Canonical Allele Identifier: CA254974

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 10016
• ClinVar RCV Id: RCV000010699
• dbSNP Id: rs137852507
• MyVariant Identifiers: chrX:g.70330453T>A (hg19) ; chrX:g.71110603T>A (hg38)
• PubMed: PMID:18941169

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110603T>A , CM000685.2:g.71110603T>A	GRCh38
NC_000023.10:g.70330453T>A , CM000685.1:g.70330453T>A	GRCh37
NC_000023.9:g.70247178T>A	NCBI36
NG_009088.1:g.5951A>T , LRG_150:g.5951A>T
NG_021141.1:g.1186A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000482750.6:c.355A>T	ENSP00000421262.2:p.Lys119Ter
ENST00000696903.1:n.406A>T
ENST00000374202.7:c.355A>T MANE Select	ENSP00000363318.3:p.Lys119Ter
ENST00000642473.1:n.719A>T
ENST00000644022.1:n.761A>T
ENST00000644708.1:n.761A>T
ENST00000644911.1:n.761A>T
ENST00000645266.1:c.355A>T	ENSP00000493734.1:p.Lys119Ter
ENST00000645518.1:c.355A>T	ENSP00000493986.1:p.Lys119Ter
ENST00000646106.1:c.355A>T	ENSP00000496437.1:p.Lys119Ter
ENST00000646505.1:c.355A>T	ENSP00000496673.1:p.Lys119Ter
ENST00000647492.1:c.355A>T	ENSP00000495340.1:p.Lys119Ter
ENST00000276110.6:n.740A>T
ENST00000374188.7:c.-362A>T	ENSP00000363303.3:n.-362A>T
ENST00000374202.6:c.355A>T	ENSP00000363318.2:p.Lys119Ter
ENST00000456850.6:c.24+822A>T	ENSP00000388967.2:n.24+822A>T
ENST00000464642.5:c.223A>T	ENSP00000425233.1:p.Lys75Ter
ENST00000473378.1:c.292A>T	ENSP00000423601.1:p.Lys98Ter
ENST00000487883.1:c.319A>T	ENSP00000423966.1:p.Lys107Ter
ENST00000512747.3:n.422A>T
NM_000206.2:c.355A>T , LRG_150t1:c.355A>T	NP_000197.1:p.Lys119Ter
NM_000206.3:c.355A>T MANE Select	NP_000197.1:p.Lys119Ter