Canonical Allele Identifier: CA063553
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs751167466
ExAC: 2:21232944 G / A
gnomAD v2: 2-21232944-G-A
gnomAD v4: 2-21010072-G-A
MyVariant Identifiers: chr2:g.21232944G>A (hg19) chr2:g.21010072G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010072G>A , CM000664.2:g.21010072G>A GRCh38
NC_000002.11:g.21232944G>A , CM000664.1:g.21232944G>A GRCh37
NC_000002.10:g.21086449G>A NCBI36
NG_011793.1:g.39002C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6796C>T MANE Select ENSP00000233242.1:p.Leu2266=
ENST00000616098.4:c.6796C>T ENSP00000477990.1:p.Leu2266=
NM_000384.2:c.6796C>T NP_000375.2:p.Leu2266=
XM_011532809.1:c.5869+661C>T XP_011531111.1:n.5869+661C>T
NM_000384.3:c.6796C>T MANE Select NP_000375.3:p.Leu2266=
Search 100 bp 5'
Search 100 bp 3'