Canonical Allele Identifier: CA413496131

Gene: IL2RG

Linked Data

• COSMIC: COSM1124608 ; COSM1124609
• MyVariant Identifiers: chrX:g.70329221C>A (hg19) ; chrX:g.71109371C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71109371C>A , CM000685.2:g.71109371C>A	GRCh38
NC_000023.10:g.70329221C>A , CM000685.1:g.70329221C>A	GRCh37
NC_000023.9:g.70245946C>A	NCBI36
NG_009088.1:g.7183G>T , LRG_150:g.7183G>T
NG_021141.1:g.2418G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.614G>T	ENSP00000421262.2:p.Arg205Ile
ENST00000696903.1:n.665G>T
ENST00000374202.7:c.614G>T MANE Select	ENSP00000363318.3:p.Arg205Ile
ENST00000642473.1:n.978G>T
ENST00000644022.1:n.880G>T
ENST00000644708.1:n.1020G>T
ENST00000644911.1:n.1020G>T
ENST00000645266.1:c.614G>T	ENSP00000493734.1:p.Arg205Ile
ENST00000645518.1:c.614G>T	ENSP00000493986.1:p.Arg205Ile
ENST00000646106.1:c.614G>T	ENSP00000496437.1:p.Arg205Ile
ENST00000646505.1:c.614G>T	ENSP00000496673.1:p.Arg205Ile
ENST00000647492.1:c.614G>T	ENSP00000495340.1:p.Arg205Ile
ENST00000276110.6:n.1207G>T
ENST00000374188.7:c.-103G>T	ENSP00000363303.3:n.-103G>T
ENST00000374202.6:c.614G>T	ENSP00000363318.2:p.Arg205Ile
ENST00000456850.6:c.44G>T	ENSP00000388967.2:p.Arg15Ile
ENST00000464642.5:c.482G>T	ENSP00000425233.1:p.Arg161Ile
ENST00000482750.5:c.27G>T
ENST00000512747.3:n.541G>T
NM_000206.2:c.614G>T , LRG_150t1:c.614G>T	NP_000197.1:p.Arg205Ile
NM_000206.3:c.614G>T MANE Select	NP_000197.1:p.Arg205Ile