Canonical Allele Identifier: CA516771391

Gene: IL2RG

Linked Data

• COSMIC: COSM3563051 ; COSM3563052
• MyVariant Identifiers: chrX:g.70328136C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71108286C>T , CM000685.2:g.71108286C>T	GRCh38
NC_000023.10:g.70328136C>T , CM000685.1:g.70328136C>T	GRCh37
NC_000023.9:g.70244861C>T	NCBI36
NG_009088.1:g.8268G>A , LRG_150:g.8268G>A
NG_021141.1:g.3503G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.*35G>A	ENSP00000421262.2:n.*35G>A
ENST00000696903.1:n.1218G>A
ENST00000374202.7:c.915G>A MANE Select	ENSP00000363318.3:p.Gly305=
ENST00000642473.1:n.1279G>A
ENST00000644022.1:n.1181G>A
ENST00000644708.1:n.1224G>A
ENST00000644911.1:n.1321G>A
ENST00000645266.1:c.915G>A	ENSP00000493734.1:p.Gly305=
ENST00000645518.1:c.915G>A	ENSP00000493986.1:p.Gly305=
ENST00000646106.1:c.915G>A	ENSP00000496437.1:p.Gly305=
ENST00000646505.1:c.915G>A	ENSP00000496673.1:p.Gly305=
ENST00000647492.1:c.915G>A	ENSP00000495340.1:p.Gly305=
ENST00000276110.6:n.1508G>A
ENST00000374188.7:c.102G>A	ENSP00000363303.3:p.Gly34=
ENST00000374202.6:c.915G>A	ENSP00000363318.2:p.Gly305=
ENST00000456850.6:c.345G>A	ENSP00000388967.2:p.Gly115=
ENST00000482750.5:c.231G>A
ENST00000512747.3:n.1094G>A
NM_000206.2:c.915G>A , LRG_150t1:c.915G>A	NP_000197.1:p.Gly305=
NM_000206.3:c.915G>A MANE Select	NP_000197.1:p.Gly305=