Canonical Allele Identifier: CA2436348630
Community Standard Title: NM_000206.3(IL2RG):c.343T= (p.Cys115=)
Gene: IL2RG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71110615A= , CM000685.2:g.71110615A= GRCh38
NC_000023.10:g.70330465A= , CM000685.1:g.70330465A= GRCh37
NC_000023.9:g.70247190A= NCBI36
NG_009088.1:g.5939T= , LRG_150:g.5939T=
NG_021141.1:g.1174T=

Transcript Alleles

HGVS Amino-acid Change
NM_000206.3:c.343T= MANE Select NP_000197.1:p.Cys115=
ENST00000374202.7:c.343T= MANE Select ENSP00000363318.3:p.Cys115=
NM_000206.2:c.343T= , LRG_150t1:c.343T= NP_000197.1:p.Cys115=
ENST00000276110.6:n.728T=
ENST00000374188.7:c.-374T= ENSP00000363303.3:n.-374T=
ENST00000374202.6:c.343T= ENSP00000363318.2:p.Cys115=
ENST00000456850.6:c.24+810T= ENSP00000388967.2:n.24+810T=
ENST00000464642.5:c.211T= ENSP00000425233.1:p.Cys71=
ENST00000473378.1:c.280T= ENSP00000423601.1:p.Cys94=
ENST00000482750.6:c.343T= ENSP00000421262.2:p.Cys115=
ENST00000487883.1:c.307T= ENSP00000423966.1:p.Cys103=
ENST00000512747.3:n.410T=
ENST00000642473.1:n.707T=
ENST00000644022.1:n.749T=
ENST00000644708.1:n.749T=
ENST00000644911.1:n.749T=
ENST00000645266.1:c.343T= ENSP00000493734.1:p.Cys115=
ENST00000645518.1:c.343T= ENSP00000493986.1:p.Cys115=
ENST00000646106.1:c.343T= ENSP00000496437.1:p.Cys115=
ENST00000646505.1:c.343T= ENSP00000496673.1:p.Cys115=
ENST00000647492.1:c.343T= ENSP00000495340.1:p.Cys115=
ENST00000696903.1:n.394T=