Canonical Allele Identifier: CA330969691

Gene: IL2RG

Linked Data

• dbSNP Id: rs1005809731
• gnomAD v2: X-70329398-T-G
• gnomAD v3: X-71109548-T-G
• gnomAD v4: X-71109548-T-G
• MyVariant Identifiers: chrX:g.70329398T>G (hg19) ; chrX:g.71109548T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71109548T>G , CM000685.2:g.71109548T>G	GRCh38
NC_000023.10:g.70329398T>G , CM000685.1:g.70329398T>G	GRCh37
NC_000023.9:g.70246123T>G	NCBI36
NG_009088.1:g.7006A>C , LRG_150:g.7006A>C
NG_021141.1:g.2241A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.595-158A>C	ENSP00000421262.2:n.595-158A>C
ENST00000696903.1:n.646-158A>C
ENST00000374202.7:c.595-158A>C MANE Select	ENSP00000363318.3:n.595-158A>C
ENST00000642473.1:n.959-158A>C
ENST00000644022.1:n.861-158A>C
ENST00000644708.1:n.1001-158A>C
ENST00000644911.1:n.1001-158A>C
ENST00000645266.1:c.595-158A>C	ENSP00000493734.1:n.595-158A>C
ENST00000645518.1:c.595-158A>C	ENSP00000493986.1:n.595-158A>C
ENST00000646106.1:c.595-158A>C	ENSP00000496437.1:n.595-158A>C
ENST00000646505.1:c.595-158A>C	ENSP00000496673.1:n.595-158A>C
ENST00000647492.1:c.595-158A>C	ENSP00000495340.1:n.595-158A>C
ENST00000276110.6:n.1188-158A>C
ENST00000374188.7:c.-122-158A>C	ENSP00000363303.3:n.-122-158A>C
ENST00000374202.6:c.595-158A>C	ENSP00000363318.2:n.595-158A>C
ENST00000456850.6:c.25-158A>C	ENSP00000388967.2:n.25-158A>C
ENST00000464642.5:c.463-158A>C	ENSP00000425233.1:n.463-158A>C
ENST00000482750.5:c.8-158A>C
ENST00000512747.3:n.522-158A>C
NM_000206.2:c.595-158A>C , LRG_150t1:c.595-158A>C	NP_000197.1:n.595-158A>C
NM_000206.3:c.595-158A>C MANE Select	NP_000197.1:n.595-158A>C