Canonical Allele Identifier: CA413497082

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 1369885
• ClinVar RCV Id: RCV001899190
• dbSNP Id: rs2147750927
• MyVariant Identifiers: chrX:g.70330800G>T (hg19) ; chrX:g.71110950G>T (hg38)
• ERepo: CA413497082/MONDO:0010315/129

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110950G>T , CM000685.2:g.71110950G>T	GRCh38
NC_000023.10:g.70330800G>T , CM000685.1:g.70330800G>T	GRCh37
NC_000023.9:g.70247525G>T	NCBI36
NG_009088.1:g.5604C>A , LRG_150:g.5604C>A
NG_021141.1:g.839C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.216C>A	ENSP00000421262.2:p.Cys72Ter
ENST00000696903.1:n.267C>A
ENST00000374202.7:c.216C>A MANE Select	ENSP00000363318.3:p.Cys72Ter
ENST00000642473.1:n.580C>A
ENST00000644022.1:n.622C>A
ENST00000644708.1:n.622C>A
ENST00000644911.1:n.622C>A
ENST00000645266.1:c.216C>A	ENSP00000493734.1:p.Cys72Ter
ENST00000645518.1:c.216C>A	ENSP00000493986.1:p.Cys72Ter
ENST00000646106.1:c.216C>A	ENSP00000496437.1:p.Cys72Ter
ENST00000646505.1:c.216C>A	ENSP00000496673.1:p.Cys72Ter
ENST00000647492.1:c.216C>A	ENSP00000495340.1:p.Cys72Ter
ENST00000276110.6:n.601C>A
ENST00000374188.7:c.-501C>A	ENSP00000363303.3:n.-501C>A
ENST00000374202.6:c.216C>A	ENSP00000363318.2:p.Cys72Ter
ENST00000456850.6:c.24+475C>A	ENSP00000388967.2:n.24+475C>A
ENST00000464642.5:c.84C>A	ENSP00000425233.1:p.Cys28Ter
ENST00000473378.1:c.153C>A	ENSP00000423601.1:p.Cys51Ter
ENST00000487883.1:c.180C>A	ENSP00000423966.1:p.Cys60Ter
ENST00000512747.3:n.283C>A
NM_000206.2:c.216C>A , LRG_150t1:c.216C>A	NP_000197.1:p.Cys72Ter
NM_000206.3:c.216C>A MANE Select	NP_000197.1:p.Cys72Ter