Canonical Allele Identifier: CA413497099

Gene: IL2RG

Linked Data

• COSMIC: COSM4534673 ; COSM4534674
• MyVariant Identifiers: chrX:g.70330806C>T (hg19) ; chrX:g.71110956C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110956C>T , CM000685.2:g.71110956C>T	GRCh38
NC_000023.10:g.70330806C>T , CM000685.1:g.70330806C>T	GRCh37
NC_000023.9:g.70247531C>T	NCBI36
NG_009088.1:g.5598G>A , LRG_150:g.5598G>A
NG_021141.1:g.833G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.210G>A	ENSP00000421262.2:p.Met70Ile
ENST00000696903.1:n.261G>A
ENST00000374202.7:c.210G>A MANE Select	ENSP00000363318.3:p.Met70Ile
ENST00000642473.1:n.574G>A
ENST00000644022.1:n.616G>A
ENST00000644708.1:n.616G>A
ENST00000644911.1:n.616G>A
ENST00000645266.1:c.210G>A	ENSP00000493734.1:p.Met70Ile
ENST00000645518.1:c.210G>A	ENSP00000493986.1:p.Met70Ile
ENST00000646106.1:c.210G>A	ENSP00000496437.1:p.Met70Ile
ENST00000646505.1:c.210G>A	ENSP00000496673.1:p.Met70Ile
ENST00000647492.1:c.210G>A	ENSP00000495340.1:p.Met70Ile
ENST00000276110.6:n.595G>A
ENST00000374188.7:c.-507G>A	ENSP00000363303.3:n.-507G>A
ENST00000374202.6:c.210G>A	ENSP00000363318.2:p.Met70Ile
ENST00000456850.6:c.24+469G>A	ENSP00000388967.2:n.24+469G>A
ENST00000464642.5:c.78G>A	ENSP00000425233.1:p.Met26Ile
ENST00000473378.1:c.147G>A	ENSP00000423601.1:p.Met49Ile
ENST00000487883.1:c.174G>A	ENSP00000423966.1:p.Met58Ile
ENST00000512747.3:n.277G>A
NM_000206.2:c.210G>A , LRG_150t1:c.210G>A	NP_000197.1:p.Met70Ile
NM_000206.3:c.210G>A MANE Select	NP_000197.1:p.Met70Ile