Canonical Allele Identifier: CA516705729

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 2744586
• ClinVar RCV Id: RCV003509294
• gnomAD v4: X-71109313-C-T
• MyVariant Identifiers: chrX:g.70329163C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71109313C>T , CM000685.2:g.71109313C>T	GRCh38
NC_000023.10:g.70329163C>T , CM000685.1:g.70329163C>T	GRCh37
NC_000023.9:g.70245888C>T	NCBI36
NG_009088.1:g.7241G>A , LRG_150:g.7241G>A
NG_021141.1:g.2476G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.672G>A	ENSP00000421262.2:p.Arg224=
ENST00000696903.1:n.723G>A
ENST00000374202.7:c.672G>A MANE Select	ENSP00000363318.3:p.Arg224=
ENST00000642473.1:n.1036G>A
ENST00000644022.1:n.938G>A
ENST00000644708.1:n.1078G>A
ENST00000644911.1:n.1078G>A
ENST00000645266.1:c.672G>A	ENSP00000493734.1:p.Arg224=
ENST00000645518.1:c.672G>A	ENSP00000493986.1:p.Arg224=
ENST00000646106.1:c.672G>A	ENSP00000496437.1:p.Arg224=
ENST00000646505.1:c.672G>A	ENSP00000496673.1:p.Arg224=
ENST00000647492.1:c.672G>A	ENSP00000495340.1:p.Arg224=
ENST00000276110.6:n.1265G>A
ENST00000374188.7:c.-45G>A	ENSP00000363303.3:n.-45G>A
ENST00000374202.6:c.672G>A	ENSP00000363318.2:p.Arg224=
ENST00000456850.6:c.102G>A	ENSP00000388967.2:p.Arg34=
ENST00000464642.5:c.540G>A	ENSP00000425233.1:p.Arg180=
ENST00000482750.5:c.85G>A
ENST00000512747.3:n.599G>A
NM_000206.2:c.672G>A , LRG_150t1:c.672G>A	NP_000197.1:p.Arg224=
NM_000206.3:c.672G>A MANE Select	NP_000197.1:p.Arg224=