Canonical Allele Identifier: CA413496137

Gene: IL2RG

Linked Data

• dbSNP Id: rs1232543594
• gnomAD v2: X-70329224-T-C
• gnomAD v4: X-71109374-T-C
• MyVariant Identifiers: chrX:g.70329224T>C (hg19) ; chrX:g.71109374T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71109374T>C , CM000685.2:g.71109374T>C	GRCh38
NC_000023.10:g.70329224T>C , CM000685.1:g.70329224T>C	GRCh37
NC_000023.9:g.70245949T>C	NCBI36
NG_009088.1:g.7180A>G , LRG_150:g.7180A>G
NG_021141.1:g.2415A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.611A>G	ENSP00000421262.2:p.Tyr204Cys
ENST00000696903.1:n.662A>G
ENST00000374202.7:c.611A>G MANE Select	ENSP00000363318.3:p.Tyr204Cys
ENST00000642473.1:n.975A>G
ENST00000644022.1:n.877A>G
ENST00000644708.1:n.1017A>G
ENST00000644911.1:n.1017A>G
ENST00000645266.1:c.611A>G	ENSP00000493734.1:p.Tyr204Cys
ENST00000645518.1:c.611A>G	ENSP00000493986.1:p.Tyr204Cys
ENST00000646106.1:c.611A>G	ENSP00000496437.1:p.Tyr204Cys
ENST00000646505.1:c.611A>G	ENSP00000496673.1:p.Tyr204Cys
ENST00000647492.1:c.611A>G	ENSP00000495340.1:p.Tyr204Cys
ENST00000276110.6:n.1204A>G
ENST00000374188.7:c.-106A>G	ENSP00000363303.3:n.-106A>G
ENST00000374202.6:c.611A>G	ENSP00000363318.2:p.Tyr204Cys
ENST00000456850.6:c.41A>G	ENSP00000388967.2:p.Tyr14Cys
ENST00000464642.5:c.479A>G	ENSP00000425233.1:p.Tyr160Cys
ENST00000482750.5:c.24A>G
ENST00000512747.3:n.538A>G
NM_000206.2:c.611A>G , LRG_150t1:c.611A>G	NP_000197.1:p.Tyr204Cys
NM_000206.3:c.611A>G MANE Select	NP_000197.1:p.Tyr204Cys