Canonical Allele Identifier: CA413496122

Gene: IL2RG

Linked Data

• gnomAD v4: X-71109368-T-C
• MyVariant Identifiers: chrX:g.70329218T>C (hg19) ; chrX:g.71109368T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71109368T>C , CM000685.2:g.71109368T>C	GRCh38
NC_000023.10:g.70329218T>C , CM000685.1:g.70329218T>C	GRCh37
NC_000023.9:g.70245943T>C	NCBI36
NG_009088.1:g.7186A>G , LRG_150:g.7186A>G
NG_021141.1:g.2421A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.617A>G	ENSP00000421262.2:p.His206Arg
ENST00000696903.1:n.668A>G
ENST00000374202.7:c.617A>G MANE Select	ENSP00000363318.3:p.His206Arg
ENST00000642473.1:n.981A>G
ENST00000644022.1:n.883A>G
ENST00000644708.1:n.1023A>G
ENST00000644911.1:n.1023A>G
ENST00000645266.1:c.617A>G	ENSP00000493734.1:p.His206Arg
ENST00000645518.1:c.617A>G	ENSP00000493986.1:p.His206Arg
ENST00000646106.1:c.617A>G	ENSP00000496437.1:p.His206Arg
ENST00000646505.1:c.617A>G	ENSP00000496673.1:p.His206Arg
ENST00000647492.1:c.617A>G	ENSP00000495340.1:p.His206Arg
ENST00000276110.6:n.1210A>G
ENST00000374188.7:c.-100A>G	ENSP00000363303.3:n.-100A>G
ENST00000374202.6:c.617A>G	ENSP00000363318.2:p.His206Arg
ENST00000456850.6:c.47A>G	ENSP00000388967.2:p.His16Arg
ENST00000464642.5:c.485A>G	ENSP00000425233.1:p.His162Arg
ENST00000482750.5:c.30A>G
ENST00000512747.3:n.544A>G
NM_000206.2:c.617A>G , LRG_150t1:c.617A>G	NP_000197.1:p.His206Arg
NM_000206.3:c.617A>G MANE Select	NP_000197.1:p.His206Arg