Canonical Allele Identifier: CA413496745

Gene: IL2RG

Linked Data

• MyVariant Identifiers: chrX:g.70330452T>A (hg19) ; chrX:g.71110602T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110602T>A , CM000685.2:g.71110602T>A	GRCh38
NC_000023.10:g.70330452T>A , CM000685.1:g.70330452T>A	GRCh37
NC_000023.9:g.70247177T>A	NCBI36
NG_009088.1:g.5952A>T , LRG_150:g.5952A>T
NG_021141.1:g.1187A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.356A>T	ENSP00000421262.2:p.Lys119Ile
ENST00000696903.1:n.407A>T
ENST00000374202.7:c.356A>T MANE Select	ENSP00000363318.3:p.Lys119Ile
ENST00000642473.1:n.720A>T
ENST00000644022.1:n.762A>T
ENST00000644708.1:n.762A>T
ENST00000644911.1:n.762A>T
ENST00000645266.1:c.356A>T	ENSP00000493734.1:p.Lys119Ile
ENST00000645518.1:c.356A>T	ENSP00000493986.1:p.Lys119Ile
ENST00000646106.1:c.356A>T	ENSP00000496437.1:p.Lys119Ile
ENST00000646505.1:c.356A>T	ENSP00000496673.1:p.Lys119Ile
ENST00000647492.1:c.356A>T	ENSP00000495340.1:p.Lys119Ile
ENST00000276110.6:n.741A>T
ENST00000374188.7:c.-361A>T	ENSP00000363303.3:n.-361A>T
ENST00000374202.6:c.356A>T	ENSP00000363318.2:p.Lys119Ile
ENST00000456850.6:c.24+823A>T	ENSP00000388967.2:n.24+823A>T
ENST00000464642.5:c.224A>T	ENSP00000425233.1:p.Lys75Ile
ENST00000473378.1:c.293A>T	ENSP00000423601.1:p.Lys98Ile
ENST00000487883.1:c.320A>T	ENSP00000423966.1:p.Lys107Ile
ENST00000512747.3:n.423A>T
NM_000206.2:c.356A>T , LRG_150t1:c.356A>T	NP_000197.1:p.Lys119Ile
NM_000206.3:c.356A>T MANE Select	NP_000197.1:p.Lys119Ile