Canonical Allele Identifier: CA3538749

Gene: IL12B

Linked Data

• ClinVar Variation Id: 776100
• ClinVar RCV Id: RCV000956350 ; RCV003903289
• dbSNP Id: rs149027358
• ExAC: 5:158747342 G / A
• gnomAD v2: 5-158747342-G-A
• gnomAD v3: 5-159320334-G-A
• gnomAD v4: 5-159320334-G-A
• MyVariant Identifiers: chr5:g.158747342G>A (hg19) ; chr5:g.159320334G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159320334G>A , CM000667.2:g.159320334G>A	GRCh38
NC_000005.9:g.158747342G>A , CM000667.1:g.158747342G>A	GRCh37
NC_000005.8:g.158679920G>A	NCBI36
NG_009618.1:g.15140C>T , LRG_71:g.15140C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696750.1:c.39C>T	ENSP00000512849.1:p.Tyr13=
ENST00000696751.1:c.*164C>T	ENSP00000512850.1:n.*164C>T
ENST00000231228.3:c.669C>T MANE Select	ENSP00000231228.2:p.Tyr223=
ENST00000231228.2:c.669C>T	ENSP00000231228.2:p.Tyr223=
NM_002187.2:c.669C>T , LRG_71t1:c.669C>T	NP_002178.2:p.Tyr223=
NM_002187.3:c.669C>T MANE Select	NP_002178.2:p.Tyr223=