Canonical Allele Identifier: CA16608908

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 377975
• ClinVar RCV Id: RCV000426062
• dbSNP Id: rs1057520293
• MyVariant Identifiers: chrX:g.70330756A>G (hg19) ; chrX:g.71110906A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110906A>G , CM000685.2:g.71110906A>G	GRCh38
NC_000023.10:g.70330756A>G , CM000685.1:g.70330756A>G	GRCh37
NC_000023.9:g.70247481A>G	NCBI36
NG_009088.1:g.5648T>C , LRG_150:g.5648T>C
NG_021141.1:g.883T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.260T>C	ENSP00000421262.2:p.Leu87Pro
ENST00000696903.1:n.311T>C
ENST00000374202.7:c.260T>C MANE Select	ENSP00000363318.3:p.Leu87Pro
ENST00000642473.1:n.624T>C
ENST00000644022.1:n.666T>C
ENST00000644708.1:n.666T>C
ENST00000644911.1:n.666T>C
ENST00000645266.1:c.260T>C	ENSP00000493734.1:p.Leu87Pro
ENST00000645518.1:c.260T>C	ENSP00000493986.1:p.Leu87Pro
ENST00000646106.1:c.260T>C	ENSP00000496437.1:p.Leu87Pro
ENST00000646505.1:c.260T>C	ENSP00000496673.1:p.Leu87Pro
ENST00000647492.1:c.260T>C	ENSP00000495340.1:p.Leu87Pro
ENST00000276110.6:n.645T>C
ENST00000374188.7:c.-457T>C	ENSP00000363303.3:n.-457T>C
ENST00000374202.6:c.260T>C	ENSP00000363318.2:p.Leu87Pro
ENST00000456850.6:c.24+519T>C	ENSP00000388967.2:n.24+519T>C
ENST00000464642.5:c.128T>C	ENSP00000425233.1:p.Leu43Pro
ENST00000473378.1:c.197T>C	ENSP00000423601.1:p.Leu66Pro
ENST00000487883.1:c.224T>C	ENSP00000423966.1:p.Leu75Pro
ENST00000512747.3:n.327T>C
NM_000206.2:c.260T>C , LRG_150t1:c.260T>C	NP_000197.1:p.Leu87Pro
NM_000206.3:c.260T>C MANE Select	NP_000197.1:p.Leu87Pro