Canonical Allele Identifier: CA052366
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 334070
ClinVar RCV Id: RCV000296467 RCV000325753 RCV001837829 RCV002379224 RCV001094659 RCV001172130
dbSNP Id: rs144040999
ExAC: 2:21224992 G / A
gnomAD v2: 2-21224992-G-A
gnomAD v3: 2-21002120-G-A
gnomAD v4: 2-21002120-G-A
MyVariant Identifiers: chr2:g.21224992G>A (hg19) chr2:g.21002120G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002120G>A , CM000664.2:g.21002120G>A GRCh38
NC_000002.11:g.21224992G>A , CM000664.1:g.21224992G>A GRCh37
NC_000002.10:g.21078497G>A NCBI36
NG_011793.1:g.46954C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13302C>T MANE Select ENSP00000233242.1:p.Ser4434=
ENST00000616098.4:c.13300C>T ENSP00000477990.1:n.13300C>T
NM_000384.2:c.13302C>T NP_000375.2:p.Ser4434=
XM_011532809.1:c.5870-2847C>T XP_011531111.1:n.5870-2847C>T
NM_000384.3:c.13302C>T MANE Select NP_000375.3:p.Ser4434=
Search 100 bp 5'
Search 100 bp 3'