Canonical Allele Identifier: CA425345298
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2047352
ClinVar RCV Id: RCV002904242
dbSNP Id: rs547372326
gnomAD v2: 2-21232483-G-A
gnomAD v3: 2-21009611-G-A
gnomAD v4: 2-21009611-G-A
MyVariant Identifiers: chr2:g.21232483G>A (hg19) chr2:g.21009611G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21009611G>A , CM000664.2:g.21009611G>A GRCh38
NC_000002.11:g.21232483G>A , CM000664.1:g.21232483G>A GRCh37
NC_000002.10:g.21085988G>A NCBI36
NG_011793.1:g.39463C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.7257C>T MANE Select ENSP00000233242.1:p.Phe2419=
ENST00000616098.4:c.7257C>T ENSP00000477990.1:p.Phe2419=
NM_000384.2:c.7257C>T NP_000375.2:p.Phe2419=
XM_011532809.1:c.5869+1122C>T XP_011531111.1:n.5869+1122C>T
NM_000384.3:c.7257C>T MANE Select NP_000375.3:p.Phe2419=
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Search 100 bp 3'