Canonical Allele Identifier: CA2694023040

Gene: IL2RG

Linked Data

• gnomAD v4: X-71110480-C-CTTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110481_71110484dup , CM000685.2:g.71110481_71110484dup	GRCh38
NC_000023.10:g.70330331_70330334dup , CM000685.1:g.70330331_70330334dup	GRCh37
NC_000023.9:g.70247056_70247059dup	NCBI36
NG_009088.1:g.6070_6073dup , LRG_150:g.6070_6073dup
NG_021141.1:g.1305_1308dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.454+20_454+23dup	ENSP00000421262.2:n.454+20_454+23dup
ENST00000696903.1:n.505+20_505+23dup
ENST00000374202.7:c.454+20_454+23dup MANE Select	ENSP00000363318.3:n.454+20_454+23dup
ENST00000642473.1:n.818+20_818+23dup
ENST00000644022.1:n.860+20_860+23dup
ENST00000644708.1:n.860+20_860+23dup
ENST00000644911.1:n.860+20_860+23dup
ENST00000645266.1:c.454+20_454+23dup	ENSP00000493734.1:n.454+20_454+23dup
ENST00000645518.1:c.454+20_454+23dup	ENSP00000493986.1:n.454+20_454+23dup
ENST00000646106.1:c.454+20_454+23dup	ENSP00000496437.1:n.454+20_454+23dup
ENST00000646505.1:c.454+20_454+23dup	ENSP00000496673.1:n.454+20_454+23dup
ENST00000647492.1:c.454+20_454+23dup	ENSP00000495340.1:n.454+20_454+23dup
ENST00000276110.6:n.859_862dup
ENST00000374188.7:c.-263+20_-263+23dup	ENSP00000363303.3:n.-263+20_-263+23dup
ENST00000374202.6:c.454+20_454+23dup	ENSP00000363318.2:n.454+20_454+23dup
ENST00000456850.6:c.24+941_24+944dup	ENSP00000388967.2:n.24+941_24+944dup
ENST00000464642.5:c.322+20_322+23dup	ENSP00000425233.1:n.322+20_322+23dup
ENST00000487883.1:c.418+20_418+23dup	ENSP00000423966.1:n.418+20_418+23dup
ENST00000512747.3:n.521+20_521+23dup
NM_000206.2:c.454+20_454+23dup , LRG_150t1:c.454+20_454+23dup	NP_000197.1:n.454+20_454+23dup
NM_000206.3:c.454+20_454+23dup MANE Select	NP_000197.1:n.454+20_454+23dup