Canonical Allele Identifier: CA43506235
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs759277505
gnomAD v3: 2-21011040-G-A
gnomAD v4: 2-21011040-G-A
COSMIC: COSM2716149
MyVariant Identifiers: chr2:g.21233912G>A (hg19) chr2:g.21011040G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21011040G>A , CM000664.2:g.21011040G>A GRCh38
NC_000002.11:g.21233912G>A , CM000664.1:g.21233912G>A GRCh37
NC_000002.10:g.21087417G>A NCBI36
NG_011793.1:g.38034C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.5828C>T MANE Select ENSP00000233242.1:p.Ser1943Phe
ENST00000616098.4:c.5828C>T ENSP00000477990.1:p.Ser1943Phe
NM_000384.2:c.5828C>T NP_000375.2:p.Ser1943Phe
XM_011532809.1:c.5828C>T XP_011531111.1:p.Ser1943Phe
NM_000384.3:c.5828C>T MANE Select NP_000375.3:p.Ser1943Phe
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