Canonical Allele Identifier: CA413628600

Gene: IL2RG

Linked Data

• dbSNP Id: rs1300212452
• gnomAD v2: X-70328479-C-T
• gnomAD v4: X-71108629-C-T
• MyVariant Identifiers: chrX:g.70328479C>T (hg19) ; chrX:g.71108629C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71108629C>T , CM000685.2:g.71108629C>T	GRCh38
NC_000023.10:g.70328479C>T , CM000685.1:g.70328479C>T	GRCh37
NC_000023.9:g.70245204C>T	NCBI36
NG_009088.1:g.7925G>A , LRG_150:g.7925G>A
NG_021141.1:g.3160G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.758-283G>A	ENSP00000421262.2:n.758-283G>A
ENST00000696903.1:n.875G>A
ENST00000374202.7:c.824G>A MANE Select	ENSP00000363318.3:p.Ser275Asn
ENST00000642473.1:n.1188G>A
ENST00000644022.1:n.1090G>A
ENST00000644708.1:n.1164-283G>A
ENST00000644911.1:n.1230G>A
ENST00000645266.1:c.824G>A	ENSP00000493734.1:p.Ser275Asn
ENST00000645518.1:c.824G>A	ENSP00000493986.1:p.Ser275Asn
ENST00000646106.1:c.824G>A	ENSP00000496437.1:p.Ser275Asn
ENST00000646505.1:c.824G>A	ENSP00000496673.1:p.Ser275Asn
ENST00000647492.1:c.824G>A	ENSP00000495340.1:p.Ser275Asn
ENST00000276110.6:n.1417G>A
ENST00000374188.7:c.42-283G>A	ENSP00000363303.3:n.42-283G>A
ENST00000374202.6:c.824G>A	ENSP00000363318.2:p.Ser275Asn
ENST00000456850.6:c.254G>A	ENSP00000388967.2:p.Ser85Asn
ENST00000482750.5:c.171-283G>A
ENST00000512747.3:n.751G>A
NM_000206.2:c.824G>A , LRG_150t1:c.824G>A	NP_000197.1:p.Ser275Asn
NM_000206.3:c.824G>A MANE Select	NP_000197.1:p.Ser275Asn