Canonical Allele Identifier: CA345997628
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs140027955
gnomAD v4: 2-21009645-G-T
MyVariant Identifiers: chr2:g.21232517G>T (hg19) chr2:g.21009645G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21009645G>T , CM000664.2:g.21009645G>T GRCh38
NC_000002.11:g.21232517G>T , CM000664.1:g.21232517G>T GRCh37
NC_000002.10:g.21086022G>T NCBI36
NG_011793.1:g.39429C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.7223C>A MANE Select ENSP00000233242.1:p.Ser2408Tyr
ENST00000616098.4:c.7223C>A ENSP00000477990.1:p.Ser2408Tyr
NM_000384.2:c.7223C>A NP_000375.2:p.Ser2408Tyr
XM_011532809.1:c.5869+1088C>A XP_011531111.1:n.5869+1088C>A
NM_000384.3:c.7223C>A MANE Select NP_000375.3:p.Ser2408Tyr
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