Canonical Allele Identifier: CA413496161

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 2778380
• ClinVar RCV Id: RCV003621754
• gnomAD v4: X-71109385-T-A
• MyVariant Identifiers: chrX:g.70329235T>A (hg19) ; chrX:g.71109385T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71109385T>A , CM000685.2:g.71109385T>A	GRCh38
NC_000023.10:g.70329235T>A , CM000685.1:g.70329235T>A	GRCh37
NC_000023.9:g.70245960T>A	NCBI36
NG_009088.1:g.7169A>T , LRG_150:g.7169A>T
NG_021141.1:g.2404A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.600A>T	ENSP00000421262.2:p.Gln200His
ENST00000696903.1:n.651A>T
ENST00000374202.7:c.600A>T MANE Select	ENSP00000363318.3:p.Gln200His
ENST00000642473.1:n.964A>T
ENST00000644022.1:n.866A>T
ENST00000644708.1:n.1006A>T
ENST00000644911.1:n.1006A>T
ENST00000645266.1:c.600A>T	ENSP00000493734.1:p.Gln200His
ENST00000645518.1:c.600A>T	ENSP00000493986.1:p.Gln200His
ENST00000646106.1:c.600A>T	ENSP00000496437.1:p.Gln200His
ENST00000646505.1:c.600A>T	ENSP00000496673.1:p.Gln200His
ENST00000647492.1:c.600A>T	ENSP00000495340.1:p.Gln200His
ENST00000276110.6:n.1193A>T
ENST00000374188.7:c.-117A>T	ENSP00000363303.3:n.-117A>T
ENST00000374202.6:c.600A>T	ENSP00000363318.2:p.Gln200His
ENST00000456850.6:c.30A>T	ENSP00000388967.2:p.Gln10His
ENST00000464642.5:c.468A>T	ENSP00000425233.1:p.Gln156His
ENST00000482750.5:c.13A>T
ENST00000512747.3:n.527A>T
NM_000206.2:c.600A>T , LRG_150t1:c.600A>T	NP_000197.1:p.Gln200His
NM_000206.3:c.600A>T MANE Select	NP_000197.1:p.Gln200His