Canonical Allele Identifier: CA43488162
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs935792706
gnomAD v4: 2-21002363-G-A
MyVariant Identifiers: chr2:g.21225235G>A (hg19) chr2:g.21002363G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002363G>A , CM000664.2:g.21002363G>A GRCh38
NC_000002.11:g.21225235G>A , CM000664.1:g.21225235G>A GRCh37
NC_000002.10:g.21078740G>A NCBI36
NG_011793.1:g.46711C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13059C>T MANE Select ENSP00000233242.1:p.Cys4353=
ENST00000616098.4:c.13057C>T ENSP00000477990.1:n.13057C>T
NM_000384.2:c.13059C>T NP_000375.2:p.Cys4353=
XM_011532809.1:c.5870-3090C>T XP_011531111.1:n.5870-3090C>T
NM_000384.3:c.13059C>T MANE Select NP_000375.3:p.Cys4353=
Search 100 bp 5'
Search 100 bp 3'