Canonical Allele Identifier: CA062757
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 926675
ClinVar RCV Id: RCV002491563
dbSNP Id: rs145424390
ExAC: 2:21233721 C / T
gnomAD v2: 2-21233721-C-T
gnomAD v3: 2-21010849-C-T
gnomAD v4: 2-21010849-C-T
MyVariant Identifiers: chr2:g.21233721C>T (hg19) chr2:g.21010849C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010849C>T , CM000664.2:g.21010849C>T GRCh38
NC_000002.11:g.21233721C>T , CM000664.1:g.21233721C>T GRCh37
NC_000002.10:g.21087226C>T NCBI36
NG_011793.1:g.38225G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6019G>A MANE Select ENSP00000233242.1:p.Val2007Met
ENST00000616098.4:c.6019G>A ENSP00000477990.1:p.Val2007Met
NM_000384.2:c.6019G>A NP_000375.2:p.Val2007Met
XM_011532809.1:c.5865-112G>A XP_011531111.1:n.5865-112G>A
NM_000384.3:c.6019G>A MANE Select NP_000375.3:p.Val2007Met
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