Canonical Allele Identifier: CA346003785
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2451313
ClinVar RCV Id: RCV003182329
dbSNP Id: rs1663299832
gnomAD v3: 2-21010992-C-T
gnomAD v4: 2-21010992-C-T
MyVariant Identifiers: chr2:g.21233864C>T (hg19) chr2:g.21010992C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010992C>T , CM000664.2:g.21010992C>T GRCh38
NC_000002.11:g.21233864C>T , CM000664.1:g.21233864C>T GRCh37
NC_000002.10:g.21087369C>T NCBI36
NG_011793.1:g.38082G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.5876G>A MANE Select ENSP00000233242.1:p.Ser1959Asn
ENST00000616098.4:c.5876G>A ENSP00000477990.1:p.Ser1959Asn
NM_000384.2:c.5876G>A NP_000375.2:p.Ser1959Asn
XM_011532809.1:c.5864+12G>A XP_011531111.1:n.5864+12G>A
NM_000384.3:c.5876G>A MANE Select NP_000375.3:p.Ser1959Asn
Search 100 bp 5'
Search 100 bp 3'