Canonical Allele Identifier: CA413496929

Gene: IL2RG

Linked Data

• dbSNP Id: rs2092261715
• gnomAD v3: X-71110683-T-C
• gnomAD v4: X-71110683-T-C
• MyVariant Identifiers: chrX:g.70330533T>C (hg19) ; chrX:g.71110683T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110683T>C , CM000685.2:g.71110683T>C	GRCh38
NC_000023.10:g.70330533T>C , CM000685.1:g.70330533T>C	GRCh37
NC_000023.9:g.70247258T>C	NCBI36
NG_009088.1:g.5871A>G , LRG_150:g.5871A>G
NG_021141.1:g.1106A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.275A>G	ENSP00000421262.2:p.Lys92Arg
ENST00000696903.1:n.326A>G
ENST00000374202.7:c.275A>G MANE Select	ENSP00000363318.3:p.Lys92Arg
ENST00000642473.1:n.639A>G
ENST00000644022.1:n.681A>G
ENST00000644708.1:n.681A>G
ENST00000644911.1:n.681A>G
ENST00000645266.1:c.275A>G	ENSP00000493734.1:p.Lys92Arg
ENST00000645518.1:c.275A>G	ENSP00000493986.1:p.Lys92Arg
ENST00000646106.1:c.275A>G	ENSP00000496437.1:p.Lys92Arg
ENST00000646505.1:c.275A>G	ENSP00000496673.1:p.Lys92Arg
ENST00000647492.1:c.275A>G	ENSP00000495340.1:p.Lys92Arg
ENST00000276110.6:n.660A>G
ENST00000374188.7:c.-442A>G	ENSP00000363303.3:n.-442A>G
ENST00000374202.6:c.275A>G	ENSP00000363318.2:p.Lys92Arg
ENST00000456850.6:c.24+742A>G	ENSP00000388967.2:n.24+742A>G
ENST00000464642.5:c.143A>G	ENSP00000425233.1:p.Lys48Arg
ENST00000473378.1:c.212A>G	ENSP00000423601.1:p.Lys71Arg
ENST00000487883.1:c.239A>G	ENSP00000423966.1:p.Lys80Arg
ENST00000512747.3:n.342A>G
NM_000206.2:c.275A>G , LRG_150t1:c.275A>G	NP_000197.1:p.Lys92Arg
NM_000206.3:c.275A>G MANE Select	NP_000197.1:p.Lys92Arg