Canonical Allele Identifier: CA064207
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs781521234
ExAC: 2:21232514 A / G
gnomAD v2: 2-21232514-A-G
gnomAD v4: 2-21009642-A-G
MyVariant Identifiers: chr2:g.21232514A>G (hg19) chr2:g.21009642A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21009642A>G , CM000664.2:g.21009642A>G GRCh38
NC_000002.11:g.21232514A>G , CM000664.1:g.21232514A>G GRCh37
NC_000002.10:g.21086019A>G NCBI36
NG_011793.1:g.39432T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.7226T>C MANE Select ENSP00000233242.1:p.Phe2409Ser
ENST00000616098.4:c.7226T>C ENSP00000477990.1:p.Phe2409Ser
NM_000384.2:c.7226T>C NP_000375.2:p.Phe2409Ser
XM_011532809.1:c.5869+1091T>C XP_011531111.1:n.5869+1091T>C
NM_000384.3:c.7226T>C MANE Select NP_000375.3:p.Phe2409Ser
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