Canonical Allele Identifier: CA425342007
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 515632
ClinVar RCV Id: RCV000613779
dbSNP Id: rs1553382258
MyVariant Identifiers: chr2:g.21224926G>T (hg19) chr2:g.21002054G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002054G>T , CM000664.2:g.21002054G>T GRCh38
NC_000002.11:g.21224926G>T , CM000664.1:g.21224926G>T GRCh37
NC_000002.10:g.21078431G>T NCBI36
NG_011793.1:g.47020C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13368C>A MANE Select ENSP00000233242.1:p.Thr4456=
ENST00000616098.4:c.13366C>A ENSP00000477990.1:n.13366C>A
NM_000384.2:c.13368C>A NP_000375.2:p.Thr4456=
XM_011532809.1:c.5870-2781C>A XP_011531111.1:n.5870-2781C>A
NM_000384.3:c.13368C>A MANE Select NP_000375.3:p.Thr4456=
Search 100 bp 5'
Search 100 bp 3'