Canonical Allele Identifier: CA345996852
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 3231453
ClinVar RCV Id: RCV004525524
gnomAD v4: 2-21009291-A-C
MyVariant Identifiers: chr2:g.21232163A>C (hg19) chr2:g.21009291A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21009291A>C , CM000664.2:g.21009291A>C GRCh38
NC_000002.11:g.21232163A>C , CM000664.1:g.21232163A>C GRCh37
NC_000002.10:g.21085668A>C NCBI36
NG_011793.1:g.39783T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.7577T>G MANE Select ENSP00000233242.1:p.Met2526Arg
ENST00000616098.4:c.7577T>G ENSP00000477990.1:p.Met2526Arg
NM_000384.2:c.7577T>G NP_000375.2:p.Met2526Arg
XM_011532809.1:c.5869+1442T>G XP_011531111.1:n.5869+1442T>G
NM_000384.3:c.7577T>G MANE Select NP_000375.3:p.Met2526Arg
Search 100 bp 5'
Search 100 bp 3'