Canonical Allele Identifier: CA10443833

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 1169461
• ClinVar RCV Id: RCV001520736
• dbSNP Id: rs767379303
• ExAC: X:70329235 T / G
• gnomAD v2: X-70329235-T-G
• gnomAD v3: X-71109385-T-G
• gnomAD v4: X-71109385-T-G
• MyVariant Identifiers: chrX:g.70329235T>G (hg19) ; chrX:g.71109385T>G (hg38)

Genomic Alleles

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

Transcript Alleles

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