Canonical Allele Identifier: CA516818574

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 1588719
• ClinVar RCV Id: RCV002098423
• dbSNP Id: rs2147750887
• gnomAD v4: X-71110917-G-A
• COSMIC: COSM5452016 ; COSM5452017
• MyVariant Identifiers: chrX:g.70330767G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110917G>A , CM000685.2:g.71110917G>A	GRCh38
NC_000023.10:g.70330767G>A , CM000685.1:g.70330767G>A	GRCh37
NC_000023.9:g.70247492G>A	NCBI36
NG_009088.1:g.5637C>T , LRG_150:g.5637C>T
NG_021141.1:g.872C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.249C>T	ENSP00000421262.2:p.Thr83=
ENST00000696903.1:n.300C>T
ENST00000374202.7:c.249C>T MANE Select	ENSP00000363318.3:p.Thr83=
ENST00000642473.1:n.613C>T
ENST00000644022.1:n.655C>T
ENST00000644708.1:n.655C>T
ENST00000644911.1:n.655C>T
ENST00000645266.1:c.249C>T	ENSP00000493734.1:p.Thr83=
ENST00000645518.1:c.249C>T	ENSP00000493986.1:p.Thr83=
ENST00000646106.1:c.249C>T	ENSP00000496437.1:p.Thr83=
ENST00000646505.1:c.249C>T	ENSP00000496673.1:p.Thr83=
ENST00000647492.1:c.249C>T	ENSP00000495340.1:p.Thr83=
ENST00000276110.6:n.634C>T
ENST00000374188.7:c.-468C>T	ENSP00000363303.3:n.-468C>T
ENST00000374202.6:c.249C>T	ENSP00000363318.2:p.Thr83=
ENST00000456850.6:c.24+508C>T	ENSP00000388967.2:n.24+508C>T
ENST00000464642.5:c.117C>T	ENSP00000425233.1:p.Thr39=
ENST00000473378.1:c.186C>T	ENSP00000423601.1:p.Thr62=
ENST00000487883.1:c.213C>T	ENSP00000423966.1:p.Thr71=
ENST00000512747.3:n.316C>T
NM_000206.2:c.249C>T , LRG_150t1:c.249C>T	NP_000197.1:p.Thr83=
NM_000206.3:c.249C>T MANE Select	NP_000197.1:p.Thr83=