Canonical Allele Identifier: CA516705818
Gene: IL2RG HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.70329232T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71109382T>G , CM000685.2:g.71109382T>G GRCh38
NC_000023.10:g.70329232T>G , CM000685.1:g.70329232T>G GRCh37
NC_000023.9:g.70245957T>G NCBI36
NG_009088.1:g.7172A>C , LRG_150:g.7172A>C
NG_021141.1:g.2407A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000482750.6:c.603A>C ENSP00000421262.2:p.Ser201=
ENST00000696903.1:n.654A>C
ENST00000374202.7:c.603A>C MANE Select ENSP00000363318.3:p.Ser201=
ENST00000642473.1:n.967A>C
ENST00000644022.1:n.869A>C
ENST00000644708.1:n.1009A>C
ENST00000644911.1:n.1009A>C
ENST00000645266.1:c.603A>C ENSP00000493734.1:p.Ser201=
ENST00000645518.1:c.603A>C ENSP00000493986.1:p.Ser201=
ENST00000646106.1:c.603A>C ENSP00000496437.1:p.Ser201=
ENST00000646505.1:c.603A>C ENSP00000496673.1:p.Ser201=
ENST00000647492.1:c.603A>C ENSP00000495340.1:p.Ser201=
ENST00000276110.6:n.1196A>C
ENST00000374188.7:c.-114A>C ENSP00000363303.3:n.-114A>C
ENST00000374202.6:c.603A>C ENSP00000363318.2:p.Ser201=
ENST00000456850.6:c.33A>C ENSP00000388967.2:p.Ser11=
ENST00000464642.5:c.471A>C ENSP00000425233.1:p.Ser157=
ENST00000482750.5:c.16A>C
ENST00000512747.3:n.530A>C
NM_000206.2:c.603A>C , LRG_150t1:c.603A>C NP_000197.1:p.Ser201=
NM_000206.3:c.603A>C MANE Select NP_000197.1:p.Ser201=