Canonical Allele Identifier: CA059827
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2929372
ClinVar RCV Id: RCV003784538
dbSNP Id: rs780330757
ExAC: 2:21260996 G / A
gnomAD v2: 2-21260996-G-A
gnomAD v3: 2-21038124-G-A
gnomAD v4: 2-21038124-G-A
MyVariant Identifiers: chr2:g.21260996G>A (hg19) chr2:g.21038124G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21038124G>A , CM000664.2:g.21038124G>A GRCh38
NC_000002.11:g.21260996G>A , CM000664.1:g.21260996G>A GRCh37
NC_000002.10:g.21114501G>A NCBI36
NG_011793.1:g.10950C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.384-869C>T ENSP00000501110.2:n.384-869C>T
ENST00000673882.2:c.384-869C>T ENSP00000501253.2:n.384-869C>T
ENST00000673739.1:c.252-869C>T ENSP00000501110.1:n.252-869C>T
ENST00000673882.1:c.252-869C>T ENSP00000501253.1:n.252-869C>T
ENST00000233242.5:c.384-13C>T MANE Select ENSP00000233242.1:n.384-13C>T
ENST00000399256.4:c.384-13C>T ENSP00000382200.4:n.384-13C>T
ENST00000616098.4:c.384-13C>T ENSP00000477990.1:n.384-13C>T
NM_000384.2:c.384-13C>T NP_000375.2:n.384-13C>T
XM_011532809.1:c.384-13C>T XP_011531111.1:n.384-13C>T
NM_000384.3:c.384-13C>T MANE Select NP_000375.3:n.384-13C>T
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