Canonical Allele Identifier: CA10443871

Gene: IL2RG

Linked Data

• dbSNP Id: rs773128720
• ExAC: X:70330307 A / G
• gnomAD v2: X-70330307-A-G
• gnomAD v3: X-71110457-A-G
• gnomAD v4: X-71110457-A-G
• MyVariant Identifiers: chrX:g.70330307A>G (hg19) ; chrX:g.71110457A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110457A>G , CM000685.2:g.71110457A>G	GRCh38
NC_000023.10:g.70330307A>G , CM000685.1:g.70330307A>G	GRCh37
NC_000023.9:g.70247032A>G	NCBI36
NG_009088.1:g.6097T>C , LRG_150:g.6097T>C
NG_021141.1:g.1332T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.454+47T>C	ENSP00000421262.2:n.454+47T>C
ENST00000696903.1:n.505+47T>C
ENST00000374202.7:c.454+47T>C MANE Select	ENSP00000363318.3:n.454+47T>C
ENST00000642473.1:n.818+47T>C
ENST00000644022.1:n.860+47T>C
ENST00000644708.1:n.860+47T>C
ENST00000644911.1:n.860+47T>C
ENST00000645266.1:c.454+47T>C	ENSP00000493734.1:n.454+47T>C
ENST00000645518.1:c.454+47T>C	ENSP00000493986.1:n.454+47T>C
ENST00000646106.1:c.454+47T>C	ENSP00000496437.1:n.454+47T>C
ENST00000646505.1:c.454+47T>C	ENSP00000496673.1:n.454+47T>C
ENST00000647492.1:c.454+47T>C	ENSP00000495340.1:n.454+47T>C
ENST00000276110.6:n.886T>C
ENST00000374188.7:c.-263+47T>C	ENSP00000363303.3:n.-263+47T>C
ENST00000374202.6:c.454+47T>C	ENSP00000363318.2:n.454+47T>C
ENST00000456850.6:c.24+968T>C	ENSP00000388967.2:n.24+968T>C
ENST00000464642.5:c.322+47T>C	ENSP00000425233.1:n.322+47T>C
ENST00000487883.1:c.418+47T>C	ENSP00000423966.1:n.418+47T>C
ENST00000512747.3:n.521+47T>C
NM_000206.2:c.454+47T>C , LRG_150t1:c.454+47T>C	NP_000197.1:n.454+47T>C
NM_000206.3:c.454+47T>C MANE Select	NP_000197.1:n.454+47T>C