Canonical Allele Identifier: CA2499226820

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 1251965
• ClinVar RCV Id: RCV001644553
• dbSNP Id: rs2147746685
• gnomAD v4: X-71108278-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71108282del , CM000685.2:g.71108282del	GRCh38
NC_000023.10:g.70328132del , CM000685.1:g.70328132del	GRCh37
NC_000023.9:g.70244857del	NCBI36
NG_009088.1:g.8275del , LRG_150:g.8275del
NG_021141.1:g.3510del

Transcript Alleles

HGVS	Amino-acid change
ENST00000482750.6:c.*42del	ENSP00000421262.2:n.*42del
ENST00000696903.1:n.1225del
ENST00000374202.7:c.922del MANE Select	ENSP00000363318.3:p.Ser308ArgfsTer?
ENST00000642473.1:n.1286del
ENST00000644022.1:n.1188del
ENST00000644708.1:n.1231del
ENST00000644911.1:n.1328del
ENST00000645266.1:c.922del	ENSP00000493734.1:p.Ser308ArgfsTer7
ENST00000645518.1:c.922del	ENSP00000493986.1:p.Ser308ArgfsTer6
ENST00000646106.1:c.922del	ENSP00000496437.1:p.Ser308ArgfsTer30
ENST00000646505.1:c.922del	ENSP00000496673.1:p.Ser308ArgfsTer?
ENST00000647492.1:c.922del	ENSP00000495340.1:p.Ser308ArgfsTer?
ENST00000276110.6:n.1515del
ENST00000374188.7:c.109del	ENSP00000363303.3:p.Ser37ArgfsTer?
ENST00000374202.6:c.922del	ENSP00000363318.2:p.Ser308ArgfsTer?
ENST00000456850.6:c.352del	ENSP00000388967.2:p.Ser118ArgfsTer?
ENST00000482750.5:c.238del
ENST00000512747.3:n.1101del
NM_000206.2:c.922del , LRG_150t1:c.922del	NP_000197.1:p.Ser308ArgfsTer?
NM_000206.3:c.922del MANE Select	NP_000197.1:p.Ser308ArgfsTer?