Canonical Allele Identifier: CA425342644
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21002774-A-C
MyVariant Identifiers: chr2:g.21225646A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002774A>C , CM000664.2:g.21002774A>C GRCh38
NC_000002.11:g.21225646A>C , CM000664.1:g.21225646A>C GRCh37
NC_000002.10:g.21079151A>C NCBI36
NG_011793.1:g.46300T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.12648T>G MANE Select ENSP00000233242.1:p.Leu4216=
ENST00000616098.4:c.12648T>G ENSP00000477990.1:p.Leu4216=
NM_000384.2:c.12648T>G NP_000375.2:p.Leu4216=
XM_011532809.1:c.5870-3501T>G XP_011531111.1:n.5870-3501T>G
NM_000384.3:c.12648T>G MANE Select NP_000375.3:p.Leu4216=
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