Canonical Allele Identifier: CA425345928
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1546156
ClinVar RCV Id: RCV002170570
dbSNP Id: rs2103357529
gnomAD v4: 2-21010823-A-T
MyVariant Identifiers: chr2:g.21233695A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010823A>T , CM000664.2:g.21010823A>T GRCh38
NC_000002.11:g.21233695A>T , CM000664.1:g.21233695A>T GRCh37
NC_000002.10:g.21087200A>T NCBI36
NG_011793.1:g.38251T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6045T>A MANE Select ENSP00000233242.1:p.Ala2015=
ENST00000616098.4:c.6045T>A ENSP00000477990.1:p.Ala2015=
NM_000384.2:c.6045T>A NP_000375.2:p.Ala2015=
XM_011532809.1:c.5865-86T>A XP_011531111.1:n.5865-86T>A
NM_000384.3:c.6045T>A MANE Select NP_000375.3:p.Ala2015=