Canonical Allele Identifier: CA516771322

Gene: IL2RG

Linked Data

• MyVariant Identifiers: chrX:g.70328130A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71108280A>G , CM000685.2:g.71108280A>G	GRCh38
NC_000023.10:g.70328130A>G , CM000685.1:g.70328130A>G	GRCh37
NC_000023.9:g.70244855A>G	NCBI36
NG_009088.1:g.8274T>C , LRG_150:g.8274T>C
NG_021141.1:g.3509T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000482750.6:c.*41T>C	ENSP00000421262.2:n.*41T>C
ENST00000696903.1:n.1224T>C
ENST00000374202.7:c.921T>C MANE Select	ENSP00000363318.3:p.Phe307=
ENST00000642473.1:n.1285T>C
ENST00000644022.1:n.1187T>C
ENST00000644708.1:n.1230T>C
ENST00000644911.1:n.1327T>C
ENST00000645266.1:c.921T>C	ENSP00000493734.1:p.Phe307=
ENST00000645518.1:c.921T>C	ENSP00000493986.1:p.Phe307=
ENST00000646106.1:c.921T>C	ENSP00000496437.1:p.Phe307=
ENST00000646505.1:c.921T>C	ENSP00000496673.1:p.Phe307=
ENST00000647492.1:c.921T>C	ENSP00000495340.1:p.Phe307=
ENST00000276110.6:n.1514T>C
ENST00000374188.7:c.108T>C	ENSP00000363303.3:p.Phe36=
ENST00000374202.6:c.921T>C	ENSP00000363318.2:p.Phe307=
ENST00000456850.6:c.351T>C	ENSP00000388967.2:p.Phe117=
ENST00000482750.5:c.237T>C
ENST00000512747.3:n.1100T>C
NM_000206.2:c.921T>C , LRG_150t1:c.921T>C	NP_000197.1:p.Phe307=
NM_000206.3:c.921T>C MANE Select	NP_000197.1:p.Phe307=