Canonical Allele Identifier: CA066925
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1768460
ClinVar RCV Id: RCV002387368 RCV003774219
dbSNP Id: rs769491475
ExAC: 2:21229869 G / A
gnomAD v2: 2-21229869-G-A
gnomAD v3: 2-21006997-G-A
gnomAD v4: 2-21006997-G-A
MyVariant Identifiers: chr2:g.21229869G>A (hg19) chr2:g.21006997G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21006997G>A , CM000664.2:g.21006997G>A GRCh38
NC_000002.11:g.21229869G>A , CM000664.1:g.21229869G>A GRCh37
NC_000002.10:g.21083374G>A NCBI36
NG_011793.1:g.42077C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.9871C>T MANE Select ENSP00000233242.1:p.Arg3291Cys
ENST00000616098.4:c.9871C>T ENSP00000477990.1:p.Arg3291Cys
NM_000384.2:c.9871C>T NP_000375.2:p.Arg3291Cys
XM_011532809.1:c.5869+3736C>T XP_011531111.1:n.5869+3736C>T
NM_000384.3:c.9871C>T MANE Select NP_000375.3:p.Arg3291Cys
Search 100 bp 5'
Search 100 bp 3'