Canonical Allele Identifier: CA345988258
Gene: APOB HGNC NCBI

Linked Data

COSMIC: COSM3577172
MyVariant Identifiers: chr2:g.21229818G>A (hg19) chr2:g.21006946G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21006946G>A , CM000664.2:g.21006946G>A GRCh38
NC_000002.11:g.21229818G>A , CM000664.1:g.21229818G>A GRCh37
NC_000002.10:g.21083323G>A NCBI36
NG_011793.1:g.42128C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.9922C>T MANE Select ENSP00000233242.1:p.His3308Tyr
ENST00000616098.4:c.9922C>T ENSP00000477990.1:p.His3308Tyr
NM_000384.2:c.9922C>T NP_000375.2:p.His3308Tyr
XM_011532809.1:c.5869+3787C>T XP_011531111.1:n.5869+3787C>T
NM_000384.3:c.9922C>T MANE Select NP_000375.3:p.His3308Tyr
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