Canonical Allele Identifier: CA413497055

Gene: IL2RG

Linked Data

• MyVariant Identifiers: chrX:g.70330789C>G (hg19) ; chrX:g.71110939C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110939C>G , CM000685.2:g.71110939C>G	GRCh38
NC_000023.10:g.70330789C>G , CM000685.1:g.70330789C>G	GRCh37
NC_000023.9:g.70247514C>G	NCBI36
NG_009088.1:g.5615G>C , LRG_150:g.5615G>C
NG_021141.1:g.850G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.227G>C	ENSP00000421262.2:p.Ser76Thr
ENST00000696903.1:n.278G>C
ENST00000374202.7:c.227G>C MANE Select	ENSP00000363318.3:p.Ser76Thr
ENST00000642473.1:n.591G>C
ENST00000644022.1:n.633G>C
ENST00000644708.1:n.633G>C
ENST00000644911.1:n.633G>C
ENST00000645266.1:c.227G>C	ENSP00000493734.1:p.Ser76Thr
ENST00000645518.1:c.227G>C	ENSP00000493986.1:p.Ser76Thr
ENST00000646106.1:c.227G>C	ENSP00000496437.1:p.Ser76Thr
ENST00000646505.1:c.227G>C	ENSP00000496673.1:p.Ser76Thr
ENST00000647492.1:c.227G>C	ENSP00000495340.1:p.Ser76Thr
ENST00000276110.6:n.612G>C
ENST00000374188.7:c.-490G>C	ENSP00000363303.3:n.-490G>C
ENST00000374202.6:c.227G>C	ENSP00000363318.2:p.Ser76Thr
ENST00000456850.6:c.24+486G>C	ENSP00000388967.2:n.24+486G>C
ENST00000464642.5:c.95G>C	ENSP00000425233.1:p.Ser32Thr
ENST00000473378.1:c.164G>C	ENSP00000423601.1:p.Ser55Thr
ENST00000487883.1:c.191G>C	ENSP00000423966.1:p.Ser64Thr
ENST00000512747.3:n.294G>C
NM_000206.2:c.227G>C , LRG_150t1:c.227G>C	NP_000197.1:p.Ser76Thr
NM_000206.3:c.227G>C MANE Select	NP_000197.1:p.Ser76Thr