Canonical Allele Identifier: CA2646129059
Gene: IL12RB2 HGNC NCBI

Linked Data

gnomAD v4: 1-67386566-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.67386566C>A , CM000663.2:g.67386566C>A GRCh38
NC_000001.10:g.67852249C>A , CM000663.1:g.67852249C>A GRCh37
NC_000001.9:g.67624837C>A NCBI36
NG_032977.1:g.84203C>A
NG_032977.2:g.84216C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000696754.1:c.1855+6443C>A ENSP00000512852.1:n.1855+6443C>A
ENST00000696755.1:c.1855+6443C>A ENSP00000512853.1:n.1855+6443C>A
ENST00000696757.1:c.1856-13C>A ENSP00000512854.1:n.1856-13C>A
ENST00000696758.1:c.*1044-3463C>A ENSP00000512855.1:n.*1044-3463C>A
ENST00000696759.1:c.1856-3463C>A ENSP00000512856.1:n.1856-3463C>A
ENST00000696763.1:n.948-13C>A
ENST00000541374.6:c.1597+6443C>A ENSP00000445276.3:n.1597+6443C>A
ENST00000648487.1:c.1856-13C>A ENSP00000497959.1:n.1856-13C>A
ENST00000674203.2:c.1856-13C>A MANE Select ENSP00000501329.1:n.1856-13C>A
ENST00000262345.5:c.1856-13C>A ENSP00000262345.1:n.1856-13C>A
ENST00000371000.5:c.1856-13C>A ENSP00000360039.1:n.1856-13C>A
ENST00000465396.1:n.197-13C>A
ENST00000541374.5:c.1855+6443C>A ENSP00000445276.2:n.1855+6443C>A
ENST00000544434.5:c.1598-13C>A ENSP00000442443.1:n.1598-13C>A
NM_001258214.1:c.1856-13C>A NP_001245143.1:n.1856-13C>A
NM_001258215.1:c.1598-13C>A NP_001245144.1:n.1598-13C>A
NM_001258216.1:c.1855+6443C>A NP_001245145.1:n.1855+6443C>A
NM_001559.2:c.1856-13C>A NP_001550.1:n.1856-13C>A
NR_047583.1:n.2337-3463C>A
NR_047584.1:n.2496-13C>A
XM_005270825.1:c.1856-13C>A XP_005270882.1:n.1856-13C>A
XM_005270827.1:c.1856-13C>A XP_005270884.1:n.1856-13C>A
XM_005270828.2:c.1856-13C>A XP_005270885.1:n.1856-13C>A
XM_006710617.1:c.1598-13C>A XP_006710680.1:n.1598-13C>A
XM_011541383.1:c.1856-13C>A XP_011539685.1:n.1856-13C>A
XM_011541384.1:c.1697-13C>A XP_011539686.1:n.1697-13C>A
XM_011541385.1:c.1856-13C>A XP_011539687.1:n.1856-13C>A
NM_001319233.1:c.1856-13C>A NP_001306162.1:n.1856-13C>A
XM_005270825.2:c.1856-13C>A XP_005270882.1:n.1856-13C>A
XM_005270827.2:c.1856-13C>A XP_005270884.1:n.1856-13C>A
XM_005270828.3:c.1856-13C>A XP_005270885.1:n.1856-13C>A
XM_006710617.2:c.1598-13C>A XP_006710680.1:n.1598-13C>A
XM_011541383.2:c.1856-13C>A XP_011539685.1:n.1856-13C>A
XM_011541384.2:c.1697-13C>A XP_011539686.1:n.1697-13C>A
XM_017001203.1:c.1856-13C>A XP_016856692.1:n.1856-13C>A
NM_001374259.2:c.1856-13C>A MANE Select NP_001361188.1:n.1856-13C>A
NM_001559.3:c.1856-13C>A NP_001550.1:n.1856-13C>A