Canonical Allele Identifier: CA346000652
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1663263823
gnomAD v4: 2-21010054-G-A
MyVariant Identifiers: chr2:g.21232926G>A (hg19) chr2:g.21010054G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010054G>A , CM000664.2:g.21010054G>A GRCh38
NC_000002.11:g.21232926G>A , CM000664.1:g.21232926G>A GRCh37
NC_000002.10:g.21086431G>A NCBI36
NG_011793.1:g.39020C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6814C>T MANE Select ENSP00000233242.1:p.His2272Tyr
ENST00000616098.4:c.6814C>T ENSP00000477990.1:p.His2272Tyr
NM_000384.2:c.6814C>T NP_000375.2:p.His2272Tyr
XM_011532809.1:c.5869+679C>T XP_011531111.1:n.5869+679C>T
NM_000384.3:c.6814C>T MANE Select NP_000375.3:p.His2272Tyr
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