Canonical Allele Identifier: CA260410
Gene: IL2RG HGNC NCBI

Linked Data

ClinVar Variation Id: 36384
ClinVar RCV Id: RCV000030053 RCV000430650
dbSNP Id: rs193922346
MyVariant Identifiers: chrX:g.70330539C>A (hg19) chrX:g.71110689C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71110689C>A , CM000685.2:g.71110689C>A GRCh38
NC_000023.10:g.70330539C>A , CM000685.1:g.70330539C>A GRCh37
NC_000023.9:g.70247264C>A NCBI36
NG_009088.1:g.5865G>T , LRG_150:g.5865G>T
NG_021141.1:g.1100G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000482750.6:c.270-1G>T ENSP00000421262.2:n.270-1G>T
ENST00000696903.1:n.321-1G>T
ENST00000374202.7:c.270-1G>T MANE Select ENSP00000363318.3:n.270-1G>T
ENST00000642473.1:n.634-1G>T
ENST00000644022.1:n.676-1G>T
ENST00000644708.1:n.676-1G>T
ENST00000644911.1:n.676-1G>T
ENST00000645266.1:c.270-1G>T ENSP00000493734.1:n.270-1G>T
ENST00000645518.1:c.270-1G>T ENSP00000493986.1:n.270-1G>T
ENST00000646106.1:c.270-1G>T ENSP00000496437.1:n.270-1G>T
ENST00000646505.1:c.270-1G>T ENSP00000496673.1:n.270-1G>T
ENST00000647492.1:c.270-1G>T ENSP00000495340.1:n.270-1G>T
ENST00000276110.6:n.655-1G>T
ENST00000374188.7:c.-447-1G>T ENSP00000363303.3:n.-447-1G>T
ENST00000374202.6:c.270-1G>T ENSP00000363318.2:n.270-1G>T
ENST00000456850.6:c.24+736G>T ENSP00000388967.2:n.24+736G>T
ENST00000464642.5:c.138-1G>T ENSP00000425233.1:n.138-1G>T
ENST00000473378.1:c.207-1G>T ENSP00000423601.1:n.207-1G>T
ENST00000487883.1:c.234-1G>T ENSP00000423966.1:n.234-1G>T
ENST00000512747.3:n.337-1G>T
NM_000206.2:c.270-1G>T , LRG_150t1:c.270-1G>T NP_000197.1:n.270-1G>T
NM_000206.3:c.270-1G>T MANE Select NP_000197.1:n.270-1G>T
Search 100 bp 5'
Search 100 bp 3'