Canonical Allele Identifier: CA413496915
Community Standard Title: NM_000206.3(IL2RG):c.281C>A (p.Ser94Ter)
Gene: IL2RG HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71110677G>T , CM000685.2:g.71110677G>T GRCh38
NC_000023.10:g.70330527G>T , CM000685.1:g.70330527G>T GRCh37
NC_000023.9:g.70247252G>T NCBI36
NG_009088.1:g.5877C>A , LRG_150:g.5877C>A
NG_021141.1:g.1112C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000206.3:c.281C>A MANE Select NP_000197.1:p.Ser94Ter
ENST00000374202.7:c.281C>A MANE Select ENSP00000363318.3:p.Ser94Ter
NM_000206.2:c.281C>A , LRG_150t1:c.281C>A NP_000197.1:p.Ser94Ter
ENST00000276110.6:n.666C>A
ENST00000374188.7:c.-436C>A ENSP00000363303.3:n.-436C>A
ENST00000374202.6:c.281C>A ENSP00000363318.2:p.Ser94Ter
ENST00000456850.6:c.24+748C>A ENSP00000388967.2:n.24+748C>A
ENST00000464642.5:c.149C>A ENSP00000425233.1:p.Ser50Ter
ENST00000473378.1:c.218C>A ENSP00000423601.1:p.Ser73Ter
ENST00000482750.6:c.281C>A ENSP00000421262.2:p.Ser94Ter
ENST00000487883.1:c.245C>A ENSP00000423966.1:p.Ser82Ter
ENST00000512747.3:n.348C>A
ENST00000642473.1:n.645C>A
ENST00000644022.1:n.687C>A
ENST00000644708.1:n.687C>A
ENST00000644911.1:n.687C>A
ENST00000645266.1:c.281C>A ENSP00000493734.1:p.Ser94Ter
ENST00000645518.1:c.281C>A ENSP00000493986.1:p.Ser94Ter
ENST00000646106.1:c.281C>A ENSP00000496437.1:p.Ser94Ter
ENST00000646505.1:c.281C>A ENSP00000496673.1:p.Ser94Ter
ENST00000647492.1:c.281C>A ENSP00000495340.1:p.Ser94Ter
ENST00000696903.1:n.332C>A
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