Canonical Allele Identifier: CA123734
Gene: IL12B HGNC NCBI

Linked Data

ClinVar Variation Id: 14054
ClinVar RCV Id: RCV000015098
dbSNP Id: rs587776807

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159323102dup , CM000667.2:g.159323102dup GRCh38
NC_000005.9:g.158750110dup , CM000667.1:g.158750110dup GRCh37
NC_000005.8:g.158682688dup NCBI36
NG_009618.1:g.12376dup , LRG_71:g.12376dup

Transcript Alleles

HGVS Amino-acid change
ENST00000231228.3:c.320dup MANE Select ENSP00000231228.2:p.Glu108GlyfsTer8
ENST00000231228.2:c.320dup ENSP00000231228.2:p.Glu108GlyfsTer8
NM_002187.2:c.320dup , LRG_71t1:c.320dup NP_002178.2:p.Glu108GlyfsTer8
XR_001742945.1:n.148-2432dup
NM_002187.3:c.320dup MANE Select NP_002178.2:p.Glu108GlyfsTer8