Canonical Allele Identifier: CA345967215
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2925857
ClinVar RCV Id: RCV003783951
dbSNP Id: rs1361236909
gnomAD v2: 2-21224771-T-C
gnomAD v3: 2-21001899-T-C
gnomAD v4: 2-21001899-T-C
MyVariant Identifiers: chr2:g.21224771T>C (hg19) chr2:g.21001899T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21001899T>C , CM000664.2:g.21001899T>C GRCh38
NC_000002.11:g.21224771T>C , CM000664.1:g.21224771T>C GRCh37
NC_000002.10:g.21078276T>C NCBI36
NG_011793.1:g.47175A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13523A>G MANE Select ENSP00000233242.1:p.Asp4508Gly
ENST00000616098.4:c.13521A>G ENSP00000477990.1:n.13521A>G
NM_000384.2:c.13523A>G NP_000375.2:p.Asp4508Gly
XM_011532809.1:c.5870-2626A>G XP_011531111.1:n.5870-2626A>G
NM_000384.3:c.13523A>G MANE Select NP_000375.3:p.Asp4508Gly
Search 100 bp 5'
Search 100 bp 3'