Canonical Allele Identifier: CA2676265268
Gene: IL12B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159323269del , CM000667.2:g.159323269del GRCh38
NC_000005.9:g.158750277del , CM000667.1:g.158750277del GRCh37
NC_000005.8:g.158682855del NCBI36
NG_009618.1:g.12205del , LRG_71:g.12205del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696750.1:c.-148-2749del ENSP00000512849.1:n.-148-2749del
ENST00000696751.1:c.149del ENSP00000512850.1:p.Cys50LeufsTer20
ENST00000231228.3:c.149del MANE Select ENSP00000231228.2:p.Cys50LeufsTer20
ENST00000231228.2:c.149del ENSP00000231228.2:p.Cys50LeufsTer20
NM_002187.2:c.149del , LRG_71t1:c.149del NP_002178.2:p.Cys50LeufsTer20
XR_001742945.1:n.148-2265del
NM_002187.3:c.149del MANE Select NP_002178.2:p.Cys50LeufsTer20