Canonical Allele Identifier: CA062703
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 430496
ClinVar RCV Id: RCV000494309 RCV003302730 RCV002481575
dbSNP Id: rs768045701
ExAC: 2:21233749 A / T
gnomAD v2: 2-21233749-A-T
gnomAD v3: 2-21010877-A-T
gnomAD v4: 2-21010877-A-T
MyVariant Identifiers: chr2:g.21233749A>T (hg19) chr2:g.21010877A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010877A>T , CM000664.2:g.21010877A>T GRCh38
NC_000002.11:g.21233749A>T , CM000664.1:g.21233749A>T GRCh37
NC_000002.10:g.21087254A>T NCBI36
NG_011793.1:g.38197T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.5991T>A MANE Select ENSP00000233242.1:p.Asp1997Glu
ENST00000616098.4:c.5991T>A ENSP00000477990.1:p.Asp1997Glu
NM_000384.2:c.5991T>A NP_000375.2:p.Asp1997Glu
XM_011532809.1:c.5864+127T>A XP_011531111.1:n.5864+127T>A
NM_000384.3:c.5991T>A MANE Select NP_000375.3:p.Asp1997Glu
Search 100 bp 5'
Search 100 bp 3'