Canonical Allele Identifier: CA413628754

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 2895913
• ClinVar RCV Id: RCV003623872
• gnomAD v4: X-71108674-A-G
• MyVariant Identifiers: chrX:g.70328524A>G (hg19) ; chrX:g.71108674A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71108674A>G , CM000685.2:g.71108674A>G	GRCh38
NC_000023.10:g.70328524A>G , CM000685.1:g.70328524A>G	GRCh37
NC_000023.9:g.70245249A>G	NCBI36
NG_009088.1:g.7880T>C , LRG_150:g.7880T>C
NG_021141.1:g.3115T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.758-328T>C	ENSP00000421262.2:n.758-328T>C
ENST00000696903.1:n.830T>C
ENST00000374202.7:c.779T>C MANE Select	ENSP00000363318.3:p.Leu260Ser
ENST00000642473.1:n.1143T>C
ENST00000644022.1:n.1045T>C
ENST00000644708.1:n.1164-328T>C
ENST00000644911.1:n.1185T>C
ENST00000645266.1:c.779T>C	ENSP00000493734.1:p.Leu260Ser
ENST00000645518.1:c.779T>C	ENSP00000493986.1:p.Leu260Ser
ENST00000646106.1:c.779T>C	ENSP00000496437.1:p.Leu260Ser
ENST00000646505.1:c.779T>C	ENSP00000496673.1:p.Leu260Ser
ENST00000647492.1:c.779T>C	ENSP00000495340.1:p.Leu260Ser
ENST00000276110.6:n.1372T>C
ENST00000374188.7:c.42-328T>C	ENSP00000363303.3:n.42-328T>C
ENST00000374202.6:c.779T>C	ENSP00000363318.2:p.Leu260Ser
ENST00000456850.6:c.209T>C	ENSP00000388967.2:p.Leu70Ser
ENST00000464642.5:c.647T>C	ENSP00000425233.1:p.Leu216Ser
ENST00000482750.5:c.171-328T>C
ENST00000512747.3:n.706T>C
NM_000206.2:c.779T>C , LRG_150t1:c.779T>C	NP_000197.1:p.Leu260Ser
NM_000206.3:c.779T>C MANE Select	NP_000197.1:p.Leu260Ser