Canonical Allele Identifier: CA2574401840
Gene: IL12RB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.67386567_67386568del , CM000663.2:g.67386567_67386568del GRCh38
NC_000001.10:g.67852250_67852251del , CM000663.1:g.67852250_67852251del GRCh37
NC_000001.9:g.67624838_67624839del NCBI36
NG_032977.1:g.84204_84205del
NG_032977.2:g.84217_84218del

Transcript Alleles

HGVS Amino-acid change
ENST00000696754.1:c.1855+6444_1855+6445del ENSP00000512852.1:n.1855+6444_1855+6445del
ENST00000696755.1:c.1855+6444_1855+6445del ENSP00000512853.1:n.1855+6444_1855+6445del
ENST00000696757.1:c.1856-12_1856-11del ENSP00000512854.1:n.1856-12_1856-11del
ENST00000696758.1:c.*1044-3462_*1044-3461del ENSP00000512855.1:n.*1044-3462_*1044-3461del
ENST00000696759.1:c.1856-3462_1856-3461del ENSP00000512856.1:n.1856-3462_1856-3461del
ENST00000696763.1:n.948-12_948-11del
ENST00000541374.6:c.1597+6444_1597+6445del ENSP00000445276.3:n.1597+6444_1597+6445del
ENST00000648487.1:c.1856-12_1856-11del ENSP00000497959.1:n.1856-12_1856-11del
ENST00000674203.2:c.1856-12_1856-11del MANE Select ENSP00000501329.1:n.1856-12_1856-11del
ENST00000262345.5:c.1856-12_1856-11del ENSP00000262345.1:n.1856-12_1856-11del
ENST00000371000.5:c.1856-12_1856-11del ENSP00000360039.1:n.1856-12_1856-11del
ENST00000465396.1:n.197-12_197-11del
ENST00000541374.5:c.1855+6444_1855+6445del ENSP00000445276.2:n.1855+6444_1855+6445del
ENST00000544434.5:c.1598-12_1598-11del ENSP00000442443.1:n.1598-12_1598-11del
NM_001258214.1:c.1856-12_1856-11del NP_001245143.1:n.1856-12_1856-11del
NM_001258215.1:c.1598-12_1598-11del NP_001245144.1:n.1598-12_1598-11del
NM_001258216.1:c.1855+6444_1855+6445del NP_001245145.1:n.1855+6444_1855+6445del
NM_001559.2:c.1856-12_1856-11del NP_001550.1:n.1856-12_1856-11del
NR_047583.1:n.2337-3462_2337-3461del
NR_047584.1:n.2496-12_2496-11del
XM_005270825.1:c.1856-12_1856-11del XP_005270882.1:n.1856-12_1856-11del
XM_005270827.1:c.1856-12_1856-11del XP_005270884.1:n.1856-12_1856-11del
XM_005270828.2:c.1856-12_1856-11del XP_005270885.1:n.1856-12_1856-11del
XM_006710617.1:c.1598-12_1598-11del XP_006710680.1:n.1598-12_1598-11del
XM_011541383.1:c.1856-12_1856-11del XP_011539685.1:n.1856-12_1856-11del
XM_011541384.1:c.1697-12_1697-11del XP_011539686.1:n.1697-12_1697-11del
XM_011541385.1:c.1856-12_1856-11del XP_011539687.1:n.1856-12_1856-11del
NM_001319233.1:c.1856-12_1856-11del NP_001306162.1:n.1856-12_1856-11del
XM_005270825.2:c.1856-12_1856-11del XP_005270882.1:n.1856-12_1856-11del
XM_005270827.2:c.1856-12_1856-11del XP_005270884.1:n.1856-12_1856-11del
XM_005270828.3:c.1856-12_1856-11del XP_005270885.1:n.1856-12_1856-11del
XM_006710617.2:c.1598-12_1598-11del XP_006710680.1:n.1598-12_1598-11del
XM_011541383.2:c.1856-12_1856-11del XP_011539685.1:n.1856-12_1856-11del
XM_011541384.2:c.1697-12_1697-11del XP_011539686.1:n.1697-12_1697-11del
XM_017001203.1:c.1856-12_1856-11del XP_016856692.1:n.1856-12_1856-11del
NM_001374259.2:c.1856-12_1856-11del MANE Select NP_001361188.1:n.1856-12_1856-11del
NM_001559.3:c.1856-12_1856-11del NP_001550.1:n.1856-12_1856-11del