Canonical Allele Identifier: CA3538679

Gene: IL12B

Linked Data

• ClinVar Variation Id: 2875441
• ClinVar RCV Id: RCV003748044
• dbSNP Id: rs144356274
• ExAC: 5:158743807 C / T
• gnomAD v2: 5-158743807-C-T
• gnomAD v4: 5-159316799-C-T
• MyVariant Identifiers: chr5:g.158743807C>T (hg19) ; chr5:g.159316799C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159316799C>T , CM000667.2:g.159316799C>T	GRCh38
NC_000005.9:g.158743807C>T , CM000667.1:g.158743807C>T	GRCh37
NC_000005.8:g.158676385C>T	NCBI36
NG_009618.1:g.18675G>A , LRG_71:g.18675G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696750.1:c.243G>A	ENSP00000512849.1:p.Thr81=
ENST00000696751.1:c.*368G>A	ENSP00000512850.1:n.*368G>A
ENST00000231228.3:c.873G>A MANE Select	ENSP00000231228.2:p.Thr291=
ENST00000231228.2:c.873G>A	ENSP00000231228.2:p.Thr291=
NM_002187.2:c.873G>A , LRG_71t1:c.873G>A	NP_002178.2:p.Thr291=
NM_002187.3:c.873G>A MANE Select	NP_002178.2:p.Thr291=