Canonical Allele Identifier: CA516816590

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 1950736
• ClinVar RCV Id: RCV002681453
• gnomAD v4: X-71110595-C-T
• MyVariant Identifiers: chrX:g.70330445C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110595C>T , CM000685.2:g.71110595C>T	GRCh38
NC_000023.10:g.70330445C>T , CM000685.1:g.70330445C>T	GRCh37
NC_000023.9:g.70247170C>T	NCBI36
NG_009088.1:g.5959G>A , LRG_150:g.5959G>A
NG_021141.1:g.1194G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.363G>A	ENSP00000421262.2:p.Glu121=
ENST00000696903.1:n.414G>A
ENST00000374202.7:c.363G>A MANE Select	ENSP00000363318.3:p.Glu121=
ENST00000642473.1:n.727G>A
ENST00000644022.1:n.769G>A
ENST00000644708.1:n.769G>A
ENST00000644911.1:n.769G>A
ENST00000645266.1:c.363G>A	ENSP00000493734.1:p.Glu121=
ENST00000645518.1:c.363G>A	ENSP00000493986.1:p.Glu121=
ENST00000646106.1:c.363G>A	ENSP00000496437.1:p.Glu121=
ENST00000646505.1:c.363G>A	ENSP00000496673.1:p.Glu121=
ENST00000647492.1:c.363G>A	ENSP00000495340.1:p.Glu121=
ENST00000276110.6:n.748G>A
ENST00000374188.7:c.-354G>A	ENSP00000363303.3:n.-354G>A
ENST00000374202.6:c.363G>A	ENSP00000363318.2:p.Glu121=
ENST00000456850.6:c.24+830G>A	ENSP00000388967.2:n.24+830G>A
ENST00000464642.5:c.231G>A	ENSP00000425233.1:p.Glu77=
ENST00000487883.1:c.327G>A	ENSP00000423966.1:p.Glu109=
ENST00000512747.3:n.430G>A
NM_000206.2:c.363G>A , LRG_150t1:c.363G>A	NP_000197.1:p.Glu121=
NM_000206.3:c.363G>A MANE Select	NP_000197.1:p.Glu121=