Canonical Allele Identifier: CA413497024

Gene: IL2RG

Linked Data

• dbSNP Id: rs1343008020
• gnomAD v3: X-71110927-G-T
• gnomAD v4: X-71110927-G-T
• MyVariant Identifiers: chrX:g.70330777G>T (hg19) ; chrX:g.71110927G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110927G>T , CM000685.2:g.71110927G>T	GRCh38
NC_000023.10:g.70330777G>T , CM000685.1:g.70330777G>T	GRCh37
NC_000023.9:g.70247502G>T	NCBI36
NG_009088.1:g.5627C>A , LRG_150:g.5627C>A
NG_021141.1:g.862C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.239C>A	ENSP00000421262.2:p.Pro80His
ENST00000696903.1:n.290C>A
ENST00000374202.7:c.239C>A MANE Select	ENSP00000363318.3:p.Pro80His
ENST00000642473.1:n.603C>A
ENST00000644022.1:n.645C>A
ENST00000644708.1:n.645C>A
ENST00000644911.1:n.645C>A
ENST00000645266.1:c.239C>A	ENSP00000493734.1:p.Pro80His
ENST00000645518.1:c.239C>A	ENSP00000493986.1:p.Pro80His
ENST00000646106.1:c.239C>A	ENSP00000496437.1:p.Pro80His
ENST00000646505.1:c.239C>A	ENSP00000496673.1:p.Pro80His
ENST00000647492.1:c.239C>A	ENSP00000495340.1:p.Pro80His
ENST00000276110.6:n.624C>A
ENST00000374188.7:c.-478C>A	ENSP00000363303.3:n.-478C>A
ENST00000374202.6:c.239C>A	ENSP00000363318.2:p.Pro80His
ENST00000456850.6:c.24+498C>A	ENSP00000388967.2:n.24+498C>A
ENST00000464642.5:c.107C>A	ENSP00000425233.1:p.Pro36His
ENST00000473378.1:c.176C>A	ENSP00000423601.1:p.Pro59His
ENST00000487883.1:c.203C>A	ENSP00000423966.1:p.Pro68His
ENST00000512747.3:n.306C>A
NM_000206.2:c.239C>A , LRG_150t1:c.239C>A	NP_000197.1:p.Pro80His
NM_000206.3:c.239C>A MANE Select	NP_000197.1:p.Pro80His