Canonical Allele Identifier: CA362032249
Gene: IL12B HGNC NCBI

Linked Data

dbSNP Id: rs1244861101
gnomAD v2: 5-158747326-T-A
gnomAD v4: 5-159320318-T-A
MyVariant Identifiers: chr5:g.158747326T>A (hg19) chr5:g.159320318T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159320318T>A , CM000667.2:g.159320318T>A GRCh38
NC_000005.9:g.158747326T>A , CM000667.1:g.158747326T>A GRCh37
NC_000005.8:g.158679904T>A NCBI36
NG_009618.1:g.15156A>T , LRG_71:g.15156A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696750.1:c.55A>T ENSP00000512849.1:p.Ile19Phe
ENST00000696751.1:c.*180A>T ENSP00000512850.1:n.*180A>T
ENST00000231228.3:c.685A>T MANE Select ENSP00000231228.2:p.Ile229Phe
ENST00000231228.2:c.685A>T ENSP00000231228.2:p.Ile229Phe
NM_002187.2:c.685A>T , LRG_71t1:c.685A>T NP_002178.2:p.Ile229Phe
NM_002187.3:c.685A>T MANE Select NP_002178.2:p.Ile229Phe
Search 100 bp 5'
Search 100 bp 3'