Canonical Allele Identifier: CA516706316
Community Standard Title: NM_000206.3(IL2RG):c.66G>T (p.Gly22=)
Gene: IL2RG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71111474C>A , CM000685.2:g.71111474C>A GRCh38
NC_000023.10:g.70331324C>A , CM000685.1:g.70331324C>A GRCh37
NC_000023.9:g.70248049C>A NCBI36
NG_009088.1:g.5080G>T , LRG_150:g.5080G>T
NG_021141.1:g.315G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000206.3:c.66G>T MANE Select NP_000197.1:p.Gly22=
ENST00000374202.7:c.66G>T MANE Select ENSP00000363318.3:p.Gly22=
NM_000206.2:c.66G>T , LRG_150t1:c.66G>T NP_000197.1:p.Gly22=
ENST00000276110.6:n.77G>T
ENST00000374188.7:c.-651G>T ENSP00000363303.3:n.-651G>T
ENST00000374202.6:c.66G>T ENSP00000363318.2:p.Gly22=
ENST00000464642.5:c.-67G>T ENSP00000425233.1:n.-67G>T
ENST00000473378.1:c.-26G>T ENSP00000423601.1:n.-26G>T
ENST00000482750.6:c.66G>T ENSP00000421262.2:p.Gly22=
ENST00000487883.1:c.-345G>T ENSP00000423966.1:n.-345G>T
ENST00000512747.3:n.133G>T
ENST00000642473.1:n.56G>T
ENST00000644022.1:n.98G>T
ENST00000644708.1:n.98G>T
ENST00000644911.1:n.98G>T
ENST00000645266.1:c.66G>T ENSP00000493734.1:p.Gly22=
ENST00000645518.1:c.66G>T ENSP00000493986.1:p.Gly22=
ENST00000646106.1:c.66G>T ENSP00000496437.1:p.Gly22=
ENST00000646505.1:c.66G>T ENSP00000496673.1:p.Gly22=
ENST00000647492.1:c.66G>T ENSP00000495340.1:p.Gly22=
ENST00000696903.1:n.117G>T