Canonical Allele Identifier: CA413628247

Gene: IL2RG

Linked Data

• MyVariant Identifiers: chrX:g.70328137C>A (hg19) ; chrX:g.71108287C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71108287C>A , CM000685.2:g.71108287C>A	GRCh38
NC_000023.10:g.70328137C>A , CM000685.1:g.70328137C>A	GRCh37
NC_000023.9:g.70244862C>A	NCBI36
NG_009088.1:g.8267G>T , LRG_150:g.8267G>T
NG_021141.1:g.3502G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000482750.6:c.*34G>T	ENSP00000421262.2:n.*34G>T
ENST00000696903.1:n.1217G>T
ENST00000374202.7:c.914G>T MANE Select	ENSP00000363318.3:p.Gly305Val
ENST00000642473.1:n.1278G>T
ENST00000644022.1:n.1180G>T
ENST00000644708.1:n.1223G>T
ENST00000644911.1:n.1320G>T
ENST00000645266.1:c.914G>T	ENSP00000493734.1:p.Gly305Val
ENST00000645518.1:c.914G>T	ENSP00000493986.1:p.Gly305Val
ENST00000646106.1:c.914G>T	ENSP00000496437.1:p.Gly305Val
ENST00000646505.1:c.914G>T	ENSP00000496673.1:p.Gly305Val
ENST00000647492.1:c.914G>T	ENSP00000495340.1:p.Gly305Val
ENST00000276110.6:n.1507G>T
ENST00000374188.7:c.101G>T	ENSP00000363303.3:p.Gly34Val
ENST00000374202.6:c.914G>T	ENSP00000363318.2:p.Gly305Val
ENST00000456850.6:c.344G>T	ENSP00000388967.2:p.Gly115Val
ENST00000482750.5:c.230G>T
ENST00000512747.3:n.1093G>T
NM_000206.2:c.914G>T , LRG_150t1:c.914G>T	NP_000197.1:p.Gly305Val
NM_000206.3:c.914G>T MANE Select	NP_000197.1:p.Gly305Val