Canonical Allele Identifier: CA10443790

Gene: IL2RG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71108344G>A , CM000685.2:g.71108344G>A	GRCh38
NC_000023.10:g.70328194G>A , CM000685.1:g.70328194G>A	GRCh37
NC_000023.9:g.70244919G>A	NCBI36
NG_009088.1:g.8210C>T , LRG_150:g.8210C>T
NG_021141.1:g.3445C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000206.3:c.857C>T MANE Select	NP_000197.1:p.Thr286Met
ENST00000374202.7:c.857C>T MANE Select	ENSP00000363318.3:p.Thr286Met
NM_000206.2:c.857C>T , LRG_150t1:c.857C>T	NP_000197.1:p.Thr286Met
ENST00000276110.6:n.1450C>T
ENST00000374188.7:c.44C>T	ENSP00000363303.3:p.Thr15Met
ENST00000374202.6:c.857C>T	ENSP00000363318.2:p.Thr286Met
ENST00000456850.6:c.287C>T	ENSP00000388967.2:p.Thr96Met
ENST00000482750.5:c.173C>T
ENST00000482750.6:c.760C>T	ENSP00000421262.2:p.Arg254Ter
ENST00000512747.3:n.1036C>T
ENST00000642473.1:n.1221C>T
ENST00000644022.1:n.1123C>T
ENST00000644708.1:n.1166C>T
ENST00000644911.1:n.1263C>T
ENST00000645266.1:c.857C>T	ENSP00000493734.1:p.Thr286Met
ENST00000645518.1:c.857C>T	ENSP00000493986.1:p.Thr286Met
ENST00000646106.1:c.857C>T	ENSP00000496437.1:p.Thr286Met
ENST00000646505.1:c.857C>T	ENSP00000496673.1:p.Thr286Met
ENST00000647492.1:c.857C>T	ENSP00000495340.1:p.Thr286Met
ENST00000696903.1:n.1160C>T