Canonical Allele Identifier: CA10443874

Gene: IL2RG

Linked Data

• dbSNP Id: rs760029502
• ExAC: X:70330321 C / T
• gnomAD v2: X-70330321-C-T
• gnomAD v3: X-71110471-C-T
• gnomAD v4: X-71110471-C-T
• MyVariant Identifiers: chrX:g.70330321C>T (hg19) ; chrX:g.71110471C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110471C>T , CM000685.2:g.71110471C>T	GRCh38
NC_000023.10:g.70330321C>T , CM000685.1:g.70330321C>T	GRCh37
NC_000023.9:g.70247046C>T	NCBI36
NG_009088.1:g.6083G>A , LRG_150:g.6083G>A
NG_021141.1:g.1318G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.454+33G>A	ENSP00000421262.2:n.454+33G>A
ENST00000696903.1:n.505+33G>A
ENST00000374202.7:c.454+33G>A MANE Select	ENSP00000363318.3:n.454+33G>A
ENST00000642473.1:n.818+33G>A
ENST00000644022.1:n.860+33G>A
ENST00000644708.1:n.860+33G>A
ENST00000644911.1:n.860+33G>A
ENST00000645266.1:c.454+33G>A	ENSP00000493734.1:n.454+33G>A
ENST00000645518.1:c.454+33G>A	ENSP00000493986.1:n.454+33G>A
ENST00000646106.1:c.454+33G>A	ENSP00000496437.1:n.454+33G>A
ENST00000646505.1:c.454+33G>A	ENSP00000496673.1:n.454+33G>A
ENST00000647492.1:c.454+33G>A	ENSP00000495340.1:n.454+33G>A
ENST00000276110.6:n.872G>A
ENST00000374188.7:c.-263+33G>A	ENSP00000363303.3:n.-263+33G>A
ENST00000374202.6:c.454+33G>A	ENSP00000363318.2:n.454+33G>A
ENST00000456850.6:c.24+954G>A	ENSP00000388967.2:n.24+954G>A
ENST00000464642.5:c.322+33G>A	ENSP00000425233.1:n.322+33G>A
ENST00000487883.1:c.418+33G>A	ENSP00000423966.1:n.418+33G>A
ENST00000512747.3:n.521+33G>A
NM_000206.2:c.454+33G>A , LRG_150t1:c.454+33G>A	NP_000197.1:n.454+33G>A
NM_000206.3:c.454+33G>A MANE Select	NP_000197.1:n.454+33G>A