Canonical Allele Identifier: CA10443787

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 1164591
• ClinVar RCV Id: RCV001510730
• dbSNP Id: rs145282692
• ExAC: X:70328139 G / A
• gnomAD v2: X-70328139-G-A
• gnomAD v3: X-71108289-G-A
• gnomAD v4: X-71108289-G-A
• MyVariant Identifiers: chrX:g.70328139G>A (hg19) ; chrX:g.71108289G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71108289G>A , CM000685.2:g.71108289G>A	GRCh38
NC_000023.10:g.70328139G>A , CM000685.1:g.70328139G>A	GRCh37
NC_000023.9:g.70244864G>A	NCBI36
NG_009088.1:g.8265C>T , LRG_150:g.8265C>T
NG_021141.1:g.3500C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000482750.6:c.*32C>T	ENSP00000421262.2:n.*32C>T
ENST00000696903.1:n.1215C>T
ENST00000374202.7:c.912C>T MANE Select	ENSP00000363318.3:p.His304=
ENST00000642473.1:n.1276C>T
ENST00000644022.1:n.1178C>T
ENST00000644708.1:n.1221C>T
ENST00000644911.1:n.1318C>T
ENST00000645266.1:c.912C>T	ENSP00000493734.1:p.His304=
ENST00000645518.1:c.912C>T	ENSP00000493986.1:p.His304=
ENST00000646106.1:c.912C>T	ENSP00000496437.1:p.His304=
ENST00000646505.1:c.912C>T	ENSP00000496673.1:p.His304=
ENST00000647492.1:c.912C>T	ENSP00000495340.1:p.His304=
ENST00000276110.6:n.1505C>T
ENST00000374188.7:c.99C>T	ENSP00000363303.3:p.His33=
ENST00000374202.6:c.912C>T	ENSP00000363318.2:p.His304=
ENST00000456850.6:c.342C>T	ENSP00000388967.2:p.His114=
ENST00000482750.5:c.228C>T
ENST00000512747.3:n.1091C>T
NM_000206.2:c.912C>T , LRG_150t1:c.912C>T	NP_000197.1:p.His304=
NM_000206.3:c.912C>T MANE Select	NP_000197.1:p.His304=