Canonical Allele Identifier: CA10443912

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 795771
• ClinVar RCV Id: RCV000979116 ; RCV001563853
• dbSNP Id: rs756100347
• ExAC: X:70330815 G / A
• gnomAD v2: X-70330815-G-A
• gnomAD v3: X-71110965-G-A
• gnomAD v4: X-71110965-G-A
• MyVariant Identifiers: chrX:g.70330815G>A (hg19) ; chrX:g.71110965G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110965G>A , CM000685.2:g.71110965G>A	GRCh38
NC_000023.10:g.70330815G>A , CM000685.1:g.70330815G>A	GRCh37
NC_000023.9:g.70247540G>A	NCBI36
NG_009088.1:g.5589C>T , LRG_150:g.5589C>T
NG_021141.1:g.824C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.201C>T	ENSP00000421262.2:p.Val67=
ENST00000696903.1:n.252C>T
ENST00000374202.7:c.201C>T MANE Select	ENSP00000363318.3:p.Val67=
ENST00000642473.1:n.565C>T
ENST00000644022.1:n.607C>T
ENST00000644708.1:n.607C>T
ENST00000644911.1:n.607C>T
ENST00000645266.1:c.201C>T	ENSP00000493734.1:p.Val67=
ENST00000645518.1:c.201C>T	ENSP00000493986.1:p.Val67=
ENST00000646106.1:c.201C>T	ENSP00000496437.1:p.Val67=
ENST00000646505.1:c.201C>T	ENSP00000496673.1:p.Val67=
ENST00000647492.1:c.201C>T	ENSP00000495340.1:p.Val67=
ENST00000276110.6:n.586C>T
ENST00000374188.7:c.-516C>T	ENSP00000363303.3:n.-516C>T
ENST00000374202.6:c.201C>T	ENSP00000363318.2:p.Val67=
ENST00000456850.6:c.24+460C>T	ENSP00000388967.2:n.24+460C>T
ENST00000464642.5:c.69C>T	ENSP00000425233.1:p.Val23=
ENST00000473378.1:c.138C>T	ENSP00000423601.1:p.Val46=
ENST00000487883.1:c.165C>T	ENSP00000423966.1:p.Val55=
ENST00000512747.3:n.268C>T
NM_000206.2:c.201C>T , LRG_150t1:c.201C>T	NP_000197.1:p.Val67=
NM_000206.3:c.201C>T MANE Select	NP_000197.1:p.Val67=