Canonical Allele Identifier: CA425343990
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2943376
ClinVar RCV Id: RCV003800494
MyVariant Identifiers: chr2:g.21229729A>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21006857A>T , CM000664.2:g.21006857A>T GRCh38
NC_000002.11:g.21229729A>T , CM000664.1:g.21229729A>T GRCh37
NC_000002.10:g.21083234A>T NCBI36
NG_011793.1:g.42217T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.10011T>A MANE Select ENSP00000233242.1:p.Ile3337=
ENST00000616098.4:c.10011T>A ENSP00000477990.1:p.Ile3337=
NM_000384.2:c.10011T>A NP_000375.2:p.Ile3337=
XM_011532809.1:c.5869+3876T>A XP_011531111.1:n.5869+3876T>A
NM_000384.3:c.10011T>A MANE Select NP_000375.3:p.Ile3337=
Search 100 bp 5'
Search 100 bp 3'