Canonical Allele Identifier: CA413628220

Gene: IL2RG

Linked Data

• MyVariant Identifiers: chrX:g.70328129A>C (hg19) ; chrX:g.71108279A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71108279A>C , CM000685.2:g.71108279A>C	GRCh38
NC_000023.10:g.70328129A>C , CM000685.1:g.70328129A>C	GRCh37
NC_000023.9:g.70244854A>C	NCBI36
NG_009088.1:g.8275T>G , LRG_150:g.8275T>G
NG_021141.1:g.3510T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000482750.6:c.*42T>G	ENSP00000421262.2:n.*42T>G
ENST00000696903.1:n.1225T>G
ENST00000374202.7:c.922T>G MANE Select	ENSP00000363318.3:p.Ser308Ala
ENST00000642473.1:n.1286T>G
ENST00000644022.1:n.1188T>G
ENST00000644708.1:n.1231T>G
ENST00000644911.1:n.1328T>G
ENST00000645266.1:c.922T>G	ENSP00000493734.1:p.Ser308Ala
ENST00000645518.1:c.922T>G	ENSP00000493986.1:p.Ser308Ala
ENST00000646106.1:c.922T>G	ENSP00000496437.1:p.Ser308Ala
ENST00000646505.1:c.922T>G	ENSP00000496673.1:p.Ser308Ala
ENST00000647492.1:c.922T>G	ENSP00000495340.1:p.Ser308Ala
ENST00000276110.6:n.1515T>G
ENST00000374188.7:c.109T>G	ENSP00000363303.3:p.Ser37Ala
ENST00000374202.6:c.922T>G	ENSP00000363318.2:p.Ser308Ala
ENST00000456850.6:c.352T>G	ENSP00000388967.2:p.Ser118Ala
ENST00000482750.5:c.238T>G
ENST00000512747.3:n.1101T>G
NM_000206.2:c.922T>G , LRG_150t1:c.922T>G	NP_000197.1:p.Ser308Ala
NM_000206.3:c.922T>G MANE Select	NP_000197.1:p.Ser308Ala