Canonical Allele Identifier: CA413495808

Gene: IL2RG

Linked Data

• MyVariant Identifiers: chrX:g.70329088A>T (hg19) ; chrX:g.71109238A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71109238A>T , CM000685.2:g.71109238A>T	GRCh38
NC_000023.10:g.70329088A>T , CM000685.1:g.70329088A>T	GRCh37
NC_000023.9:g.70245813A>T	NCBI36
NG_009088.1:g.7316T>A , LRG_150:g.7316T>A
NG_021141.1:g.2551T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.747T>A	ENSP00000421262.2:p.Asn249Lys
ENST00000696903.1:n.798T>A
ENST00000374202.7:c.747T>A MANE Select	ENSP00000363318.3:p.Asn249Lys
ENST00000642473.1:n.1111T>A
ENST00000644022.1:n.1013T>A
ENST00000644708.1:n.1153T>A
ENST00000644911.1:n.1153T>A
ENST00000645266.1:c.747T>A	ENSP00000493734.1:p.Asn249Lys
ENST00000645518.1:c.747T>A	ENSP00000493986.1:p.Asn249Lys
ENST00000646106.1:c.747T>A	ENSP00000496437.1:p.Asn249Lys
ENST00000646505.1:c.747T>A	ENSP00000496673.1:p.Asn249Lys
ENST00000647492.1:c.747T>A	ENSP00000495340.1:p.Asn249Lys
ENST00000276110.6:n.1340T>A
ENST00000374188.7:c.31T>A	ENSP00000363303.3:p.Tyr11Asn
ENST00000374202.6:c.747T>A	ENSP00000363318.2:p.Asn249Lys
ENST00000456850.6:c.177T>A	ENSP00000388967.2:p.Asn59Lys
ENST00000464642.5:c.615T>A	ENSP00000425233.1:p.Asn205Lys
ENST00000482750.5:c.160T>A
ENST00000512747.3:n.674T>A
NM_000206.2:c.747T>A , LRG_150t1:c.747T>A	NP_000197.1:p.Asn249Lys
NM_000206.3:c.747T>A MANE Select	NP_000197.1:p.Asn249Lys