Canonical Allele Identifier: CA10443908

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 2909149
• ClinVar RCV Id: RCV003622177
• dbSNP Id: rs754003939
• ExAC: X:70330730 CT / C
• gnomAD v2: X-70330730-CT-C
• gnomAD v3: X-71110880-CT-C
• gnomAD v4: X-71110880-CT-C
• MyVariant Identifiers: chrX:g.70330731del (hg19) ; chrX:g.71110881del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110881del , CM000685.2:g.71110881del	GRCh38
NC_000023.10:g.70330731del , CM000685.1:g.70330731del	GRCh37
NC_000023.9:g.70247456del	NCBI36
NG_009088.1:g.5673del , LRG_150:g.5673del
NG_021141.1:g.908del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.269+16del	ENSP00000421262.2:n.269+16del
ENST00000696903.1:n.320+16del
ENST00000374202.7:c.269+16del MANE Select	ENSP00000363318.3:n.269+16del
ENST00000642473.1:n.633+16del
ENST00000644022.1:n.675+16del
ENST00000644708.1:n.675+16del
ENST00000644911.1:n.675+16del
ENST00000645266.1:c.269+16del	ENSP00000493734.1:n.269+16del
ENST00000645518.1:c.269+16del	ENSP00000493986.1:n.269+16del
ENST00000646106.1:c.269+16del	ENSP00000496437.1:n.269+16del
ENST00000646505.1:c.269+16del	ENSP00000496673.1:n.269+16del
ENST00000647492.1:c.269+16del	ENSP00000495340.1:n.269+16del
ENST00000276110.6:n.654+16del
ENST00000374188.7:c.-448+16del	ENSP00000363303.3:n.-448+16del
ENST00000374202.6:c.269+16del	ENSP00000363318.2:n.269+16del
ENST00000456850.6:c.24+544del	ENSP00000388967.2:n.24+544del
ENST00000464642.5:c.137+16del	ENSP00000425233.1:n.137+16del
ENST00000473378.1:c.206+16del	ENSP00000423601.1:n.206+16del
ENST00000487883.1:c.233+16del	ENSP00000423966.1:n.233+16del
ENST00000512747.3:n.336+16del
NM_000206.2:c.269+16del , LRG_150t1:c.269+16del	NP_000197.1:n.269+16del
NM_000206.3:c.269+16del MANE Select	NP_000197.1:n.269+16del