Canonical Allele Identifier: CA064246
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2929550
ClinVar RCV Id: RCV003784716
dbSNP Id: rs758575076
ExAC: 2:21232492 A / G
gnomAD v2: 2-21232492-A-G
gnomAD v4: 2-21009620-A-G
MyVariant Identifiers: chr2:g.21232492A>G (hg19) chr2:g.21009620A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21009620A>G , CM000664.2:g.21009620A>G GRCh38
NC_000002.11:g.21232492A>G , CM000664.1:g.21232492A>G GRCh37
NC_000002.10:g.21085997A>G NCBI36
NG_011793.1:g.39454T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.7248T>C MANE Select ENSP00000233242.1:p.Val2416=
ENST00000616098.4:c.7248T>C ENSP00000477990.1:p.Val2416=
NM_000384.2:c.7248T>C NP_000375.2:p.Val2416=
XM_011532809.1:c.5869+1113T>C XP_011531111.1:n.5869+1113T>C
NM_000384.3:c.7248T>C MANE Select NP_000375.3:p.Val2416=
Search 100 bp 5'
Search 100 bp 3'