Canonical Allele Identifier: CA064294
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1758133
ClinVar RCV Id: RCV002382708 RCV003776372
dbSNP Id: rs747588681
ExAC: 2:21232442 T / A
gnomAD v2: 2-21232442-T-A
gnomAD v3: 2-21009570-T-A
gnomAD v4: 2-21009570-T-A
MyVariant Identifiers: chr2:g.21232442T>A (hg19) chr2:g.21009570T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21009570T>A , CM000664.2:g.21009570T>A GRCh38
NC_000002.11:g.21232442T>A , CM000664.1:g.21232442T>A GRCh37
NC_000002.10:g.21085947T>A NCBI36
NG_011793.1:g.39504A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.7298A>T MANE Select ENSP00000233242.1:p.His2433Leu
ENST00000616098.4:c.7298A>T ENSP00000477990.1:p.His2433Leu
NM_000384.2:c.7298A>T NP_000375.2:p.His2433Leu
XM_011532809.1:c.5869+1163A>T XP_011531111.1:n.5869+1163A>T
NM_000384.3:c.7298A>T MANE Select NP_000375.3:p.His2433Leu
Search 100 bp 5'
Search 100 bp 3'