Canonical Allele Identifier: CA063273

Gene: APOB

Linked Data

• ClinVar Variation Id: 933432
• ClinVar RCV Id: RCV001838422 ; RCV004033506
• dbSNP Id: rs771904479
• ExAC: 2:21233256 C / T
• gnomAD v2: 2-21233256-C-T
• gnomAD v4: 2-21010384-C-T
• COSMIC: COSM5861681
• MyVariant Identifiers: chr2:g.21233256C>T (hg19) ; chr2:g.21010384C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21010384C>T , CM000664.2:g.21010384C>T	GRCh38
NC_000002.11:g.21233256C>T , CM000664.1:g.21233256C>T	GRCh37
NC_000002.10:g.21086761C>T	NCBI36
NG_011793.1:g.38690G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.6484G>A MANE Select	ENSP00000233242.1:p.Asp2162Asn
ENST00000616098.4:c.6484G>A	ENSP00000477990.1:p.Asp2162Asn
NM_000384.2:c.6484G>A	NP_000375.2:p.Asp2162Asn
XM_011532809.1:c.5869+349G>A	XP_011531111.1:n.5869+349G>A
NM_000384.3:c.6484G>A MANE Select	NP_000375.3:p.Asp2162Asn