Canonical Allele Identifier: CA10443911

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 969920
• ClinVar RCV Id: RCV001245376
• dbSNP Id: rs745652226
• ExAC: X:70330790 T / C
• gnomAD v2: X-70330790-T-C
• gnomAD v3: X-71110940-T-C
• gnomAD v4: X-71110940-T-C
• MyVariant Identifiers: chrX:g.70330790T>C (hg19) ; chrX:g.71110940T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110940T>C , CM000685.2:g.71110940T>C	GRCh38
NC_000023.10:g.70330790T>C , CM000685.1:g.70330790T>C	GRCh37
NC_000023.9:g.70247515T>C	NCBI36
NG_009088.1:g.5614A>G , LRG_150:g.5614A>G
NG_021141.1:g.849A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.226A>G	ENSP00000421262.2:p.Ser76Gly
ENST00000696903.1:n.277A>G
ENST00000374202.7:c.226A>G MANE Select	ENSP00000363318.3:p.Ser76Gly
ENST00000642473.1:n.590A>G
ENST00000644022.1:n.632A>G
ENST00000644708.1:n.632A>G
ENST00000644911.1:n.632A>G
ENST00000645266.1:c.226A>G	ENSP00000493734.1:p.Ser76Gly
ENST00000645518.1:c.226A>G	ENSP00000493986.1:p.Ser76Gly
ENST00000646106.1:c.226A>G	ENSP00000496437.1:p.Ser76Gly
ENST00000646505.1:c.226A>G	ENSP00000496673.1:p.Ser76Gly
ENST00000647492.1:c.226A>G	ENSP00000495340.1:p.Ser76Gly
ENST00000276110.6:n.611A>G
ENST00000374188.7:c.-491A>G	ENSP00000363303.3:n.-491A>G
ENST00000374202.6:c.226A>G	ENSP00000363318.2:p.Ser76Gly
ENST00000456850.6:c.24+485A>G	ENSP00000388967.2:n.24+485A>G
ENST00000464642.5:c.94A>G	ENSP00000425233.1:p.Ser32Gly
ENST00000473378.1:c.163A>G	ENSP00000423601.1:p.Ser55Gly
ENST00000487883.1:c.190A>G	ENSP00000423966.1:p.Ser64Gly
ENST00000512747.3:n.293A>G
NM_000206.2:c.226A>G , LRG_150t1:c.226A>G	NP_000197.1:p.Ser76Gly
NM_000206.3:c.226A>G MANE Select	NP_000197.1:p.Ser76Gly