Canonical Allele Identifier: CA2436348618

Gene: IL2RG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110570C= , CM000685.2:g.71110570C=	GRCh38
NC_000023.10:g.70330420C= , CM000685.1:g.70330420C=	GRCh37
NC_000023.9:g.70247145C=	NCBI36
NG_009088.1:g.5984G= , LRG_150:g.5984G=
NG_021141.1:g.1219G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.388G=	ENSP00000421262.2:p.Val130=
ENST00000696903.1:n.439G=
ENST00000374202.7:c.388G= MANE Select	ENSP00000363318.3:p.Val130=
ENST00000642473.1:n.752G=
ENST00000644022.1:n.794G=
ENST00000644708.1:n.794G=
ENST00000644911.1:n.794G=
ENST00000645266.1:c.388G=	ENSP00000493734.1:p.Val130=
ENST00000645518.1:c.388G=	ENSP00000493986.1:p.Val130=
ENST00000646106.1:c.388G=	ENSP00000496437.1:p.Val130=
ENST00000646505.1:c.388G=	ENSP00000496673.1:p.Val130=
ENST00000647492.1:c.388G=	ENSP00000495340.1:p.Val130=
ENST00000276110.6:n.773G=
ENST00000374188.7:c.-329G=	ENSP00000363303.3:n.-329G=
ENST00000374202.6:c.388G=	ENSP00000363318.2:p.Val130=
ENST00000456850.6:c.24+855G=	ENSP00000388967.2:n.24+855G=
ENST00000464642.5:c.256G=	ENSP00000425233.1:p.Val86=
ENST00000487883.1:c.352G=	ENSP00000423966.1:p.Val118=
ENST00000512747.3:n.455G=
NM_000206.2:c.388G= , LRG_150t1:c.388G=	NP_000197.1:p.Val130=
NM_000206.3:c.388G= MANE Select	NP_000197.1:p.Val130=