Canonical Allele Identifier: CA516816588
Gene: IL2RG HGNC NCBI

Linked Data

ClinVar Variation Id: 1139893
ClinVar RCV Id: RCV001476735
dbSNP Id: rs2092261325
gnomAD v4: X-71110589-G-A
MyVariant Identifiers: chrX:g.70330439G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71110589G>A , CM000685.2:g.71110589G>A GRCh38
NC_000023.10:g.70330439G>A , CM000685.1:g.70330439G>A GRCh37
NC_000023.9:g.70247164G>A NCBI36
NG_009088.1:g.5965C>T , LRG_150:g.5965C>T
NG_021141.1:g.1200C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000482750.6:c.369C>T ENSP00000421262.2:p.His123=
ENST00000696903.1:n.420C>T
ENST00000374202.7:c.369C>T MANE Select ENSP00000363318.3:p.His123=
ENST00000642473.1:n.733C>T
ENST00000644022.1:n.775C>T
ENST00000644708.1:n.775C>T
ENST00000644911.1:n.775C>T
ENST00000645266.1:c.369C>T ENSP00000493734.1:p.His123=
ENST00000645518.1:c.369C>T ENSP00000493986.1:p.His123=
ENST00000646106.1:c.369C>T ENSP00000496437.1:p.His123=
ENST00000646505.1:c.369C>T ENSP00000496673.1:p.His123=
ENST00000647492.1:c.369C>T ENSP00000495340.1:p.His123=
ENST00000276110.6:n.754C>T
ENST00000374188.7:c.-348C>T ENSP00000363303.3:n.-348C>T
ENST00000374202.6:c.369C>T ENSP00000363318.2:p.His123=
ENST00000456850.6:c.24+836C>T ENSP00000388967.2:n.24+836C>T
ENST00000464642.5:c.237C>T ENSP00000425233.1:p.His79=
ENST00000487883.1:c.333C>T ENSP00000423966.1:p.His111=
ENST00000512747.3:n.436C>T
NM_000206.2:c.369C>T , LRG_150t1:c.369C>T NP_000197.1:p.His123=
NM_000206.3:c.369C>T MANE Select NP_000197.1:p.His123=