Canonical Allele Identifier: CA23489131
Gene: IL12RB2 HGNC NCBI

Linked Data

dbSNP Id: rs368819495
gnomAD v2: 1-67852242-A-G
gnomAD v3: 1-67386559-A-G
gnomAD v4: 1-67386559-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.67386559A>G , CM000663.2:g.67386559A>G GRCh38
NC_000001.10:g.67852242A>G , CM000663.1:g.67852242A>G GRCh37
NC_000001.9:g.67624830A>G NCBI36
NG_032977.1:g.84196A>G
NG_032977.2:g.84209A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696754.1:c.1855+6436A>G ENSP00000512852.1:n.1855+6436A>G
ENST00000696755.1:c.1855+6436A>G ENSP00000512853.1:n.1855+6436A>G
ENST00000696757.1:c.1856-20A>G ENSP00000512854.1:n.1856-20A>G
ENST00000696758.1:c.*1044-3470A>G ENSP00000512855.1:n.*1044-3470A>G
ENST00000696759.1:c.1856-3470A>G ENSP00000512856.1:n.1856-3470A>G
ENST00000696763.1:n.948-20A>G
ENST00000541374.6:c.1597+6436A>G ENSP00000445276.3:n.1597+6436A>G
ENST00000648487.1:c.1856-20A>G ENSP00000497959.1:n.1856-20A>G
ENST00000674203.2:c.1856-20A>G MANE Select ENSP00000501329.1:n.1856-20A>G
ENST00000262345.5:c.1856-20A>G ENSP00000262345.1:n.1856-20A>G
ENST00000371000.5:c.1856-20A>G ENSP00000360039.1:n.1856-20A>G
ENST00000465396.1:n.197-20A>G
ENST00000541374.5:c.1855+6436A>G ENSP00000445276.2:n.1855+6436A>G
ENST00000544434.5:c.1598-20A>G ENSP00000442443.1:n.1598-20A>G
NM_001258214.1:c.1856-20A>G NP_001245143.1:n.1856-20A>G
NM_001258215.1:c.1598-20A>G NP_001245144.1:n.1598-20A>G
NM_001258216.1:c.1855+6436A>G NP_001245145.1:n.1855+6436A>G
NM_001559.2:c.1856-20A>G NP_001550.1:n.1856-20A>G
NR_047583.1:n.2337-3470A>G
NR_047584.1:n.2496-20A>G
XM_005270825.1:c.1856-20A>G XP_005270882.1:n.1856-20A>G
XM_005270827.1:c.1856-20A>G XP_005270884.1:n.1856-20A>G
XM_005270828.2:c.1856-20A>G XP_005270885.1:n.1856-20A>G
XM_006710617.1:c.1598-20A>G XP_006710680.1:n.1598-20A>G
XM_011541383.1:c.1856-20A>G XP_011539685.1:n.1856-20A>G
XM_011541384.1:c.1697-20A>G XP_011539686.1:n.1697-20A>G
XM_011541385.1:c.1856-20A>G XP_011539687.1:n.1856-20A>G
NM_001319233.1:c.1856-20A>G NP_001306162.1:n.1856-20A>G
XM_005270825.2:c.1856-20A>G XP_005270882.1:n.1856-20A>G
XM_005270827.2:c.1856-20A>G XP_005270884.1:n.1856-20A>G
XM_005270828.3:c.1856-20A>G XP_005270885.1:n.1856-20A>G
XM_006710617.2:c.1598-20A>G XP_006710680.1:n.1598-20A>G
XM_011541383.2:c.1856-20A>G XP_011539685.1:n.1856-20A>G
XM_011541384.2:c.1697-20A>G XP_011539686.1:n.1697-20A>G
XM_017001203.1:c.1856-20A>G XP_016856692.1:n.1856-20A>G
NM_001374259.2:c.1856-20A>G MANE Select NP_001361188.1:n.1856-20A>G
NM_001559.3:c.1856-20A>G NP_001550.1:n.1856-20A>G