Canonical Allele Identifier: CA413496171

Gene: IL2RG

Linked Data

• MyVariant Identifiers: chrX:g.70329239T>A (hg19) ; chrX:g.71109389T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71109389T>A , CM000685.2:g.71109389T>A	GRCh38
NC_000023.10:g.70329239T>A , CM000685.1:g.70329239T>A	GRCh37
NC_000023.9:g.70245964T>A	NCBI36
NG_009088.1:g.7165A>T , LRG_150:g.7165A>T
NG_021141.1:g.2400A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.596A>T	ENSP00000421262.2:p.Glu199Val
ENST00000696903.1:n.647A>T
ENST00000374202.7:c.596A>T MANE Select	ENSP00000363318.3:p.Glu199Val
ENST00000642473.1:n.960A>T
ENST00000644022.1:n.862A>T
ENST00000644708.1:n.1002A>T
ENST00000644911.1:n.1002A>T
ENST00000645266.1:c.596A>T	ENSP00000493734.1:p.Glu199Val
ENST00000645518.1:c.596A>T	ENSP00000493986.1:p.Glu199Val
ENST00000646106.1:c.596A>T	ENSP00000496437.1:p.Glu199Val
ENST00000646505.1:c.596A>T	ENSP00000496673.1:p.Glu199Val
ENST00000647492.1:c.596A>T	ENSP00000495340.1:p.Glu199Val
ENST00000276110.6:n.1189A>T
ENST00000374188.7:c.-121A>T	ENSP00000363303.3:n.-121A>T
ENST00000374202.6:c.596A>T	ENSP00000363318.2:p.Glu199Val
ENST00000456850.6:c.26A>T	ENSP00000388967.2:p.Glu9Val
ENST00000464642.5:c.464A>T	ENSP00000425233.1:p.Glu155Val
ENST00000482750.5:c.9A>T
ENST00000512747.3:n.523A>T
NM_000206.2:c.596A>T , LRG_150t1:c.596A>T	NP_000197.1:p.Glu199Val
NM_000206.3:c.596A>T MANE Select	NP_000197.1:p.Glu199Val