Canonical Allele Identifier: CA413497129

Gene: IL2RG

Linked Data

• MyVariant Identifiers: chrX:g.70330819T>G (hg19) ; chrX:g.71110969T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110969T>G , CM000685.2:g.71110969T>G	GRCh38
NC_000023.10:g.70330819T>G , CM000685.1:g.70330819T>G	GRCh37
NC_000023.9:g.70247544T>G	NCBI36
NG_009088.1:g.5585A>C , LRG_150:g.5585A>C
NG_021141.1:g.820A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.197A>C	ENSP00000421262.2:p.Asn66Thr
ENST00000696903.1:n.248A>C
ENST00000374202.7:c.197A>C MANE Select	ENSP00000363318.3:p.Asn66Thr
ENST00000642473.1:n.561A>C
ENST00000644022.1:n.603A>C
ENST00000644708.1:n.603A>C
ENST00000644911.1:n.603A>C
ENST00000645266.1:c.197A>C	ENSP00000493734.1:p.Asn66Thr
ENST00000645518.1:c.197A>C	ENSP00000493986.1:p.Asn66Thr
ENST00000646106.1:c.197A>C	ENSP00000496437.1:p.Asn66Thr
ENST00000646505.1:c.197A>C	ENSP00000496673.1:p.Asn66Thr
ENST00000647492.1:c.197A>C	ENSP00000495340.1:p.Asn66Thr
ENST00000276110.6:n.582A>C
ENST00000374188.7:c.-520A>C	ENSP00000363303.3:n.-520A>C
ENST00000374202.6:c.197A>C	ENSP00000363318.2:p.Asn66Thr
ENST00000456850.6:c.24+456A>C	ENSP00000388967.2:n.24+456A>C
ENST00000464642.5:c.65A>C	ENSP00000425233.1:p.Asn22Thr
ENST00000473378.1:c.134A>C	ENSP00000423601.1:p.Asn45Thr
ENST00000487883.1:c.161A>C	ENSP00000423966.1:p.Asn54Thr
ENST00000512747.3:n.264A>C
NM_000206.2:c.197A>C , LRG_150t1:c.197A>C	NP_000197.1:p.Asn66Thr
NM_000206.3:c.197A>C MANE Select	NP_000197.1:p.Asn66Thr