Canonical Allele Identifier: CA516705780
Gene: IL2RG HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.70329205C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71109355C>T , CM000685.2:g.71109355C>T GRCh38
NC_000023.10:g.70329205C>T , CM000685.1:g.70329205C>T GRCh37
NC_000023.9:g.70245930C>T NCBI36
NG_009088.1:g.7199G>A , LRG_150:g.7199G>A
NG_021141.1:g.2434G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000482750.6:c.630G>A ENSP00000421262.2:p.Leu210=
ENST00000696903.1:n.681G>A
ENST00000374202.7:c.630G>A MANE Select ENSP00000363318.3:p.Leu210=
ENST00000642473.1:n.994G>A
ENST00000644022.1:n.896G>A
ENST00000644708.1:n.1036G>A
ENST00000644911.1:n.1036G>A
ENST00000645266.1:c.630G>A ENSP00000493734.1:p.Leu210=
ENST00000645518.1:c.630G>A ENSP00000493986.1:p.Leu210=
ENST00000646106.1:c.630G>A ENSP00000496437.1:p.Leu210=
ENST00000646505.1:c.630G>A ENSP00000496673.1:p.Leu210=
ENST00000647492.1:c.630G>A ENSP00000495340.1:p.Leu210=
ENST00000276110.6:n.1223G>A
ENST00000374188.7:c.-87G>A ENSP00000363303.3:n.-87G>A
ENST00000374202.6:c.630G>A ENSP00000363318.2:p.Leu210=
ENST00000456850.6:c.60G>A ENSP00000388967.2:p.Leu20=
ENST00000464642.5:c.498G>A ENSP00000425233.1:p.Leu166=
ENST00000482750.5:c.43G>A
ENST00000512747.3:n.557G>A
NM_000206.2:c.630G>A , LRG_150t1:c.630G>A NP_000197.1:p.Leu210=
NM_000206.3:c.630G>A MANE Select NP_000197.1:p.Leu210=