Canonical Allele Identifier: CA051437
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 920530
ClinVar RCV Id: RCV002497626 RCV002379695
dbSNP Id: rs761260344
ExAC: 2:21225405 G / A
gnomAD v2: 2-21225405-G-A
gnomAD v3: 2-21002533-G-A
gnomAD v4: 2-21002533-G-A
MyVariant Identifiers: chr2:g.21225405G>A (hg19) chr2:g.21002533G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002533G>A , CM000664.2:g.21002533G>A GRCh38
NC_000002.11:g.21225405G>A , CM000664.1:g.21225405G>A GRCh37
NC_000002.10:g.21078910G>A NCBI36
NG_011793.1:g.46541C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.12889C>T MANE Select ENSP00000233242.1:p.Arg4297Cys
ENST00000616098.4:c.12889C>T ENSP00000477990.1:p.Arg4297Cys
NM_000384.2:c.12889C>T NP_000375.2:p.Arg4297Cys
XM_011532809.1:c.5870-3260C>T XP_011531111.1:n.5870-3260C>T
NM_000384.3:c.12889C>T MANE Select NP_000375.3:p.Arg4297Cys
Search 100 bp 5'
Search 100 bp 3'