Canonical Allele Identifier: CA066918
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 927812
ClinVar RCV Id: RCV002379738 RCV002560109
dbSNP Id: rs772993823
ExAC: 2:21229872 C / T
gnomAD v2: 2-21229872-C-T
gnomAD v3: 2-21007000-C-T
gnomAD v4: 2-21007000-C-T
COSMIC: COSM84579
MyVariant Identifiers: chr2:g.21229872C>T (hg19) chr2:g.21007000C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21007000C>T , CM000664.2:g.21007000C>T GRCh38
NC_000002.11:g.21229872C>T , CM000664.1:g.21229872C>T GRCh37
NC_000002.10:g.21083377C>T NCBI36
NG_011793.1:g.42074G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.9868G>A MANE Select ENSP00000233242.1:p.Val3290Ile
ENST00000616098.4:c.9868G>A ENSP00000477990.1:p.Val3290Ile
NM_000384.2:c.9868G>A NP_000375.2:p.Val3290Ile
XM_011532809.1:c.5869+3733G>A XP_011531111.1:n.5869+3733G>A
NM_000384.3:c.9868G>A MANE Select NP_000375.3:p.Val3290Ile
Search 100 bp 5'
Search 100 bp 3'