Canonical Allele Identifier: CA10612667
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 334059
ClinVar RCV Id: RCV000281010 RCV000338352
dbSNP Id: rs12720763
gnomAD v2: 2-21224422-C-A
gnomAD v3: 2-21001550-C-A
gnomAD v4: 2-21001550-C-A
MyVariant Identifiers: chr2:g.21224422C>A (hg19) chr2:g.21001550C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21001550C>A , CM000664.2:g.21001550C>A GRCh38
NC_000002.11:g.21224422C>A , CM000664.1:g.21224422C>A GRCh37
NC_000002.10:g.21077927C>A NCBI36
NG_011793.1:g.47524G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.*180G>T MANE Select ENSP00000233242.1:n.*180G>T
ENST00000616098.4:c.13870G>T ENSP00000477990.1:n.13870G>T
NM_000384.2:c.*180G>T NP_000375.2:n.*180G>T
XM_011532809.1:c.5870-2277G>T XP_011531111.1:n.5870-2277G>T
NM_000384.3:c.*180G>T MANE Select NP_000375.3:n.*180G>T
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