Canonical Allele Identifier: CA1134080387

Gene: IL2RG

Linked Data

• dbSNP Id: rs1418506169
• gnomAD v3: X-71109484-A-G
• gnomAD v4: X-71109484-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71109484A>G , CM000685.2:g.71109484A>G	GRCh38
NC_000023.10:g.70329334A>G , CM000685.1:g.70329334A>G	GRCh37
NC_000023.9:g.70246059A>G	NCBI36
NG_009088.1:g.7070T>C , LRG_150:g.7070T>C
NG_021141.1:g.2305T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.595-94T>C	ENSP00000421262.2:n.595-94T>C
ENST00000696903.1:n.646-94T>C
ENST00000374202.7:c.595-94T>C MANE Select	ENSP00000363318.3:n.595-94T>C
ENST00000642473.1:n.959-94T>C
ENST00000644022.1:n.861-94T>C
ENST00000644708.1:n.1001-94T>C
ENST00000644911.1:n.1001-94T>C
ENST00000645266.1:c.595-94T>C	ENSP00000493734.1:n.595-94T>C
ENST00000645518.1:c.595-94T>C	ENSP00000493986.1:n.595-94T>C
ENST00000646106.1:c.595-94T>C	ENSP00000496437.1:n.595-94T>C
ENST00000646505.1:c.595-94T>C	ENSP00000496673.1:n.595-94T>C
ENST00000647492.1:c.595-94T>C	ENSP00000495340.1:n.595-94T>C
ENST00000276110.6:n.1188-94T>C
ENST00000374188.7:c.-122-94T>C	ENSP00000363303.3:n.-122-94T>C
ENST00000374202.6:c.595-94T>C	ENSP00000363318.2:n.595-94T>C
ENST00000456850.6:c.25-94T>C	ENSP00000388967.2:n.25-94T>C
ENST00000464642.5:c.463-94T>C	ENSP00000425233.1:n.463-94T>C
ENST00000482750.5:c.8-94T>C
ENST00000512747.3:n.522-94T>C
NM_000206.2:c.595-94T>C , LRG_150t1:c.595-94T>C	NP_000197.1:n.595-94T>C
NM_000206.3:c.595-94T>C MANE Select	NP_000197.1:n.595-94T>C