Canonical Allele Identifier: CA413497107

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 941327
• ClinVar RCV Id: RCV001211090
• dbSNP Id: rs1282558220
• MyVariant Identifiers: chrX:g.70330809G>T (hg19) ; chrX:g.71110959G>T (hg38)
• ERepo: CA413497107/MONDO:0010315/129

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110959G>T , CM000685.2:g.71110959G>T	GRCh38
NC_000023.10:g.70330809G>T , CM000685.1:g.70330809G>T	GRCh37
NC_000023.9:g.70247534G>T	NCBI36
NG_009088.1:g.5595C>A , LRG_150:g.5595C>A
NG_021141.1:g.830C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.207C>A	ENSP00000421262.2:p.Tyr69Ter
ENST00000696903.1:n.258C>A
ENST00000374202.7:c.207C>A MANE Select	ENSP00000363318.3:p.Tyr69Ter
ENST00000642473.1:n.571C>A
ENST00000644022.1:n.613C>A
ENST00000644708.1:n.613C>A
ENST00000644911.1:n.613C>A
ENST00000645266.1:c.207C>A	ENSP00000493734.1:p.Tyr69Ter
ENST00000645518.1:c.207C>A	ENSP00000493986.1:p.Tyr69Ter
ENST00000646106.1:c.207C>A	ENSP00000496437.1:p.Tyr69Ter
ENST00000646505.1:c.207C>A	ENSP00000496673.1:p.Tyr69Ter
ENST00000647492.1:c.207C>A	ENSP00000495340.1:p.Tyr69Ter
ENST00000276110.6:n.592C>A
ENST00000374188.7:c.-510C>A	ENSP00000363303.3:n.-510C>A
ENST00000374202.6:c.207C>A	ENSP00000363318.2:p.Tyr69Ter
ENST00000456850.6:c.24+466C>A	ENSP00000388967.2:n.24+466C>A
ENST00000464642.5:c.75C>A	ENSP00000425233.1:p.Tyr25Ter
ENST00000473378.1:c.144C>A	ENSP00000423601.1:p.Tyr48Ter
ENST00000487883.1:c.171C>A	ENSP00000423966.1:p.Tyr57Ter
ENST00000512747.3:n.274C>A
NM_000206.2:c.207C>A , LRG_150t1:c.207C>A	NP_000197.1:p.Tyr69Ter
NM_000206.3:c.207C>A MANE Select	NP_000197.1:p.Tyr69Ter