Canonical Allele Identifier: CA516818612

Gene: IL2RG

Linked Data

• MyVariant Identifiers: chrX:g.70330818A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110968A>G , CM000685.2:g.71110968A>G	GRCh38
NC_000023.10:g.70330818A>G , CM000685.1:g.70330818A>G	GRCh37
NC_000023.9:g.70247543A>G	NCBI36
NG_009088.1:g.5586T>C , LRG_150:g.5586T>C
NG_021141.1:g.821T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.198T>C	ENSP00000421262.2:p.Asn66=
ENST00000696903.1:n.249T>C
ENST00000374202.7:c.198T>C MANE Select	ENSP00000363318.3:p.Asn66=
ENST00000642473.1:n.562T>C
ENST00000644022.1:n.604T>C
ENST00000644708.1:n.604T>C
ENST00000644911.1:n.604T>C
ENST00000645266.1:c.198T>C	ENSP00000493734.1:p.Asn66=
ENST00000645518.1:c.198T>C	ENSP00000493986.1:p.Asn66=
ENST00000646106.1:c.198T>C	ENSP00000496437.1:p.Asn66=
ENST00000646505.1:c.198T>C	ENSP00000496673.1:p.Asn66=
ENST00000647492.1:c.198T>C	ENSP00000495340.1:p.Asn66=
ENST00000276110.6:n.583T>C
ENST00000374188.7:c.-519T>C	ENSP00000363303.3:n.-519T>C
ENST00000374202.6:c.198T>C	ENSP00000363318.2:p.Asn66=
ENST00000456850.6:c.24+457T>C	ENSP00000388967.2:n.24+457T>C
ENST00000464642.5:c.66T>C	ENSP00000425233.1:p.Asn22=
ENST00000473378.1:c.135T>C	ENSP00000423601.1:p.Asn45=
ENST00000487883.1:c.162T>C	ENSP00000423966.1:p.Asn54=
ENST00000512747.3:n.265T>C
NM_000206.2:c.198T>C , LRG_150t1:c.198T>C	NP_000197.1:p.Asn66=
NM_000206.3:c.198T>C MANE Select	NP_000197.1:p.Asn66=