Canonical Allele Identifier: CA1134080400

Gene: IL2RG

Linked Data

• dbSNP Id: rs2092258601
• gnomAD v3: X-71109526-C-T
• gnomAD v4: X-71109526-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71109526C>T , CM000685.2:g.71109526C>T	GRCh38
NC_000023.10:g.70329376C>T , CM000685.1:g.70329376C>T	GRCh37
NC_000023.9:g.70246101C>T	NCBI36
NG_009088.1:g.7028G>A , LRG_150:g.7028G>A
NG_021141.1:g.2263G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.595-136G>A	ENSP00000421262.2:n.595-136G>A
ENST00000696903.1:n.646-136G>A
ENST00000374202.7:c.595-136G>A MANE Select	ENSP00000363318.3:n.595-136G>A
ENST00000642473.1:n.959-136G>A
ENST00000644022.1:n.861-136G>A
ENST00000644708.1:n.1001-136G>A
ENST00000644911.1:n.1001-136G>A
ENST00000645266.1:c.595-136G>A	ENSP00000493734.1:n.595-136G>A
ENST00000645518.1:c.595-136G>A	ENSP00000493986.1:n.595-136G>A
ENST00000646106.1:c.595-136G>A	ENSP00000496437.1:n.595-136G>A
ENST00000646505.1:c.595-136G>A	ENSP00000496673.1:n.595-136G>A
ENST00000647492.1:c.595-136G>A	ENSP00000495340.1:n.595-136G>A
ENST00000276110.6:n.1188-136G>A
ENST00000374188.7:c.-122-136G>A	ENSP00000363303.3:n.-122-136G>A
ENST00000374202.6:c.595-136G>A	ENSP00000363318.2:n.595-136G>A
ENST00000456850.6:c.25-136G>A	ENSP00000388967.2:n.25-136G>A
ENST00000464642.5:c.463-136G>A	ENSP00000425233.1:n.463-136G>A
ENST00000482750.5:c.8-136G>A
ENST00000512747.3:n.522-136G>A
NM_000206.2:c.595-136G>A , LRG_150t1:c.595-136G>A	NP_000197.1:n.595-136G>A
NM_000206.3:c.595-136G>A MANE Select	NP_000197.1:n.595-136G>A