Canonical Allele Identifier: CA411425115
Gene: IL2RB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.37128589G>A , CM000684.2:g.37128589G>A GRCh38
NC_000022.10:g.37524629G>A , CM000684.1:g.37524629G>A GRCh37
NC_000022.9:g.35854575G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000429622.6:c.1163C>T ENSP00000402685.2:p.Ser388Leu
ENST00000445595.2:c.1163C>T ENSP00000401020.2:p.Ser388Leu
ENST00000453962.6:c.1163C>T ENSP00000403731.2:p.Ser388Leu
ENST00000698883.1:c.1163C>T ENSP00000514005.1:p.Ser388Leu
ENST00000698890.1:c.1163C>T ENSP00000514009.1:p.Ser388Leu
ENST00000698891.1:c.*1155C>T ENSP00000514010.1:n.*1155C>T
ENST00000698892.1:c.1163C>T ENSP00000514011.1:p.Ser388Leu
ENST00000698893.1:c.1163C>T ENSP00000514012.1:p.Ser388Leu
ENST00000698894.1:c.1181C>T ENSP00000514013.1:p.Ser394Leu
ENST00000698895.1:c.*963C>T ENSP00000514014.1:n.*963C>T
ENST00000698896.1:c.*922C>T ENSP00000514015.1:n.*922C>T
ENST00000698902.1:c.1160C>T ENSP00000514017.1:p.Ser387Leu
ENST00000698903.1:c.1160C>T ENSP00000514018.1:p.Ser387Leu
ENST00000698904.1:c.1136C>T ENSP00000514019.1:p.Ser379Leu
ENST00000698905.1:c.*337C>T ENSP00000514020.1:n.*337C>T
ENST00000703410.1:c.903+3795C>T ENSP00000516411.1:n.903+3795C>T
ENST00000216223.10:c.1163C>T MANE Select ENSP00000216223.5:p.Ser388Leu
ENST00000216223.9:c.1163C>T ENSP00000216223.5:p.Ser388Leu
ENST00000483573.1:n.641C>T
NM_000878.3:c.1163C>T NP_000869.1:p.Ser388Leu
NM_000878.4:c.1163C>T NP_000869.1:p.Ser388Leu
NM_001346222.1:c.1163C>T NP_001333151.1:p.Ser388Leu
NM_001346223.1:c.1163C>T NP_001333152.1:p.Ser388Leu
NM_000878.5:c.1163C>T MANE Select NP_000869.1:p.Ser388Leu
NM_001346223.2:c.1163C>T NP_001333152.1:p.Ser388Leu