Canonical Allele Identifier: CA3538850

Gene: IL12B

Linked Data

• ClinVar Variation Id: 352577
• ClinVar RCV Id: RCV000277010
• dbSNP Id: rs142998256
• ExAC: 5:158750126 C / T
• gnomAD v2: 5-158750126-C-T
• gnomAD v3: 5-159323118-C-T
• gnomAD v4: 5-159323118-C-T
• MyVariant Identifiers: chr5:g.158750126C>T (hg19) ; chr5:g.159323118C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159323118C>T , CM000667.2:g.159323118C>T	GRCh38
NC_000005.9:g.158750126C>T , CM000667.1:g.158750126C>T	GRCh37
NC_000005.8:g.158682704C>T	NCBI36
NG_009618.1:g.12356G>A , LRG_71:g.12356G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696750.1:c.-148-2598G>A	ENSP00000512849.1:n.-148-2598G>A
ENST00000696751.1:c.300G>A	ENSP00000512850.1:p.Ser100=
ENST00000231228.3:c.300G>A MANE Select	ENSP00000231228.2:p.Ser100=
ENST00000231228.2:c.300G>A	ENSP00000231228.2:p.Ser100=
NM_002187.2:c.300G>A , LRG_71t1:c.300G>A	NP_002178.2:p.Ser100=
XR_001742945.1:n.148-2416C>T
NM_002187.3:c.300G>A MANE Select	NP_002178.2:p.Ser100=