Canonical Allele Identifier: CA413496554

Gene: IL2RG

Linked Data

• gnomAD v4: X-71110519-T-C
• MyVariant Identifiers: chrX:g.70330369T>C (hg19) ; chrX:g.71110519T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110519T>C , CM000685.2:g.71110519T>C	GRCh38
NC_000023.10:g.70330369T>C , CM000685.1:g.70330369T>C	GRCh37
NC_000023.9:g.70247094T>C	NCBI36
NG_009088.1:g.6035A>G , LRG_150:g.6035A>G
NG_021141.1:g.1270A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000482750.6:c.439A>G	ENSP00000421262.2:p.Lys147Glu
ENST00000696903.1:n.490A>G
ENST00000374202.7:c.439A>G MANE Select	ENSP00000363318.3:p.Lys147Glu
ENST00000642473.1:n.803A>G
ENST00000644022.1:n.845A>G
ENST00000644708.1:n.845A>G
ENST00000644911.1:n.845A>G
ENST00000645266.1:c.439A>G	ENSP00000493734.1:p.Lys147Glu
ENST00000645518.1:c.439A>G	ENSP00000493986.1:p.Lys147Glu
ENST00000646106.1:c.439A>G	ENSP00000496437.1:p.Lys147Glu
ENST00000646505.1:c.439A>G	ENSP00000496673.1:p.Lys147Glu
ENST00000647492.1:c.439A>G	ENSP00000495340.1:p.Lys147Glu
ENST00000276110.6:n.824A>G
ENST00000374188.7:c.-278A>G	ENSP00000363303.3:n.-278A>G
ENST00000374202.6:c.439A>G	ENSP00000363318.2:p.Lys147Glu
ENST00000456850.6:c.24+906A>G	ENSP00000388967.2:n.24+906A>G
ENST00000464642.5:c.307A>G	ENSP00000425233.1:p.Lys103Glu
ENST00000487883.1:c.403A>G	ENSP00000423966.1:p.Lys135Glu
ENST00000512747.3:n.506A>G
NM_000206.2:c.439A>G , LRG_150t1:c.439A>G	NP_000197.1:p.Lys147Glu
NM_000206.3:c.439A>G MANE Select	NP_000197.1:p.Lys147Glu