Canonical Allele Identifier: CA413497035

Gene: IL2RG

Linked Data

• MyVariant Identifiers: chrX:g.70330781C>G (hg19) ; chrX:g.71110931C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110931C>G , CM000685.2:g.71110931C>G	GRCh38
NC_000023.10:g.70330781C>G , CM000685.1:g.70330781C>G	GRCh37
NC_000023.9:g.70247506C>G	NCBI36
NG_009088.1:g.5623G>C , LRG_150:g.5623G>C
NG_021141.1:g.858G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.235G>C	ENSP00000421262.2:p.Glu79Gln
ENST00000696903.1:n.286G>C
ENST00000374202.7:c.235G>C MANE Select	ENSP00000363318.3:p.Glu79Gln
ENST00000642473.1:n.599G>C
ENST00000644022.1:n.641G>C
ENST00000644708.1:n.641G>C
ENST00000644911.1:n.641G>C
ENST00000645266.1:c.235G>C	ENSP00000493734.1:p.Glu79Gln
ENST00000645518.1:c.235G>C	ENSP00000493986.1:p.Glu79Gln
ENST00000646106.1:c.235G>C	ENSP00000496437.1:p.Glu79Gln
ENST00000646505.1:c.235G>C	ENSP00000496673.1:p.Glu79Gln
ENST00000647492.1:c.235G>C	ENSP00000495340.1:p.Glu79Gln
ENST00000276110.6:n.620G>C
ENST00000374188.7:c.-482G>C	ENSP00000363303.3:n.-482G>C
ENST00000374202.6:c.235G>C	ENSP00000363318.2:p.Glu79Gln
ENST00000456850.6:c.24+494G>C	ENSP00000388967.2:n.24+494G>C
ENST00000464642.5:c.103G>C	ENSP00000425233.1:p.Glu35Gln
ENST00000473378.1:c.172G>C	ENSP00000423601.1:p.Glu58Gln
ENST00000487883.1:c.199G>C	ENSP00000423966.1:p.Glu67Gln
ENST00000512747.3:n.302G>C
NM_000206.2:c.235G>C , LRG_150t1:c.235G>C	NP_000197.1:p.Glu79Gln
NM_000206.3:c.235G>C MANE Select	NP_000197.1:p.Glu79Gln