Canonical Allele Identifier: CA054839
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs770273010
ExAC: 2:21224584 A / C
gnomAD v2: 2-21224584-A-C
gnomAD v4: 2-21001712-A-C
MyVariant Identifiers: chr2:g.21224584A>C (hg19) chr2:g.21001712A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21001712A>C , CM000664.2:g.21001712A>C GRCh38
NC_000002.11:g.21224584A>C , CM000664.1:g.21224584A>C GRCh37
NC_000002.10:g.21078089A>C NCBI36
NG_011793.1:g.47362T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.*18T>G MANE Select ENSP00000233242.1:n.*18T>G
ENST00000616098.4:c.13708T>G ENSP00000477990.1:n.13708T>G
NM_000384.2:c.*18T>G NP_000375.2:n.*18T>G
XM_011532809.1:c.5870-2439T>G XP_011531111.1:n.5870-2439T>G
NM_000384.3:c.*18T>G MANE Select NP_000375.3:n.*18T>G
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