Canonical Allele Identifier: CA10443884

Gene: IL2RG

Linked Data

• dbSNP Id: rs137852507
• ExAC: X:70330453 T / G
• gnomAD v2: X-70330453-T-G
• gnomAD v4: X-71110603-T-G
• MyVariant Identifiers: chrX:g.70330453T>G (hg19) ; chrX:g.71110603T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110603T>G , CM000685.2:g.71110603T>G	GRCh38
NC_000023.10:g.70330453T>G , CM000685.1:g.70330453T>G	GRCh37
NC_000023.9:g.70247178T>G	NCBI36
NG_009088.1:g.5951A>C , LRG_150:g.5951A>C
NG_021141.1:g.1186A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000482750.6:c.355A>C	ENSP00000421262.2:p.Lys119Gln
ENST00000696903.1:n.406A>C
ENST00000374202.7:c.355A>C MANE Select	ENSP00000363318.3:p.Lys119Gln
ENST00000642473.1:n.719A>C
ENST00000644022.1:n.761A>C
ENST00000644708.1:n.761A>C
ENST00000644911.1:n.761A>C
ENST00000645266.1:c.355A>C	ENSP00000493734.1:p.Lys119Gln
ENST00000645518.1:c.355A>C	ENSP00000493986.1:p.Lys119Gln
ENST00000646106.1:c.355A>C	ENSP00000496437.1:p.Lys119Gln
ENST00000646505.1:c.355A>C	ENSP00000496673.1:p.Lys119Gln
ENST00000647492.1:c.355A>C	ENSP00000495340.1:p.Lys119Gln
ENST00000276110.6:n.740A>C
ENST00000374188.7:c.-362A>C	ENSP00000363303.3:n.-362A>C
ENST00000374202.6:c.355A>C	ENSP00000363318.2:p.Lys119Gln
ENST00000456850.6:c.24+822A>C	ENSP00000388967.2:n.24+822A>C
ENST00000464642.5:c.223A>C	ENSP00000425233.1:p.Lys75Gln
ENST00000473378.1:c.292A>C	ENSP00000423601.1:p.Lys98Gln
ENST00000487883.1:c.319A>C	ENSP00000423966.1:p.Lys107Gln
ENST00000512747.3:n.422A>C
NM_000206.2:c.355A>C , LRG_150t1:c.355A>C	NP_000197.1:p.Lys119Gln
NM_000206.3:c.355A>C MANE Select	NP_000197.1:p.Lys119Gln