Canonical Allele Identifier: CA058806
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 928134
ClinVar RCV Id: RCV002560131
dbSNP Id: rs749353361
ExAC: 2:21238330 G / A
gnomAD v2: 2-21238330-G-A
gnomAD v4: 2-21015458-G-A
MyVariant Identifiers: chr2:g.21238330G>A (hg19) chr2:g.21015458G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21015458G>A , CM000664.2:g.21015458G>A GRCh38
NC_000002.11:g.21238330G>A , CM000664.1:g.21238330G>A GRCh37
NC_000002.10:g.21091835G>A NCBI36
NG_011793.1:g.33616C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*2726C>T ENSP00000501110.2:n.*2726C>T
ENST00000673882.2:c.*2515C>T ENSP00000501253.2:n.*2515C>T
ENST00000673739.1:c.3134C>T ENSP00000501110.1:n.3134C>T
ENST00000673882.1:c.2923C>T ENSP00000501253.1:n.2923C>T
ENST00000233242.5:c.3420C>T MANE Select ENSP00000233242.1:p.His1140=
ENST00000616098.4:c.3420C>T ENSP00000477990.1:p.His1140=
NM_000384.2:c.3420C>T NP_000375.2:p.His1140=
XM_011532809.1:c.3420C>T XP_011531111.1:p.His1140=
NM_000384.3:c.3420C>T MANE Select NP_000375.3:p.His1140=
Search 100 bp 5'
Search 100 bp 3'