Canonical Allele Identifier: CA066913
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 927813
ClinVar RCV Id: RCV002379739 RCV001838416
dbSNP Id: rs72654404
ExAC: 2:21229873 G / A
gnomAD v2: 2-21229873-G-A
gnomAD v3: 2-21007001-G-A
gnomAD v4: 2-21007001-G-A
MyVariant Identifiers: chr2:g.21229873G>A (hg19) chr2:g.21007001G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21007001G>A , CM000664.2:g.21007001G>A GRCh38
NC_000002.11:g.21229873G>A , CM000664.1:g.21229873G>A GRCh37
NC_000002.10:g.21083378G>A NCBI36
NG_011793.1:g.42073C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.9867C>T MANE Select ENSP00000233242.1:p.Asp3289=
ENST00000616098.4:c.9867C>T ENSP00000477990.1:p.Asp3289=
NM_000384.2:c.9867C>T NP_000375.2:p.Asp3289=
XM_011532809.1:c.5869+3732C>T XP_011531111.1:n.5869+3732C>T
NM_000384.3:c.9867C>T MANE Select NP_000375.3:p.Asp3289=
Search 100 bp 5'
Search 100 bp 3'