Canonical Allele Identifier: CA425345938
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2097417
ClinVar RCV Id: RCV003028457
MyVariant Identifiers: chr2:g.21233317T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010445T>C , CM000664.2:g.21010445T>C GRCh38
NC_000002.11:g.21233317T>C , CM000664.1:g.21233317T>C GRCh37
NC_000002.10:g.21086822T>C NCBI36
NG_011793.1:g.38629A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6423A>G MANE Select ENSP00000233242.1:p.Lys2141=
ENST00000616098.4:c.6423A>G ENSP00000477990.1:p.Lys2141=
NM_000384.2:c.6423A>G NP_000375.2:p.Lys2141=
XM_011532809.1:c.5869+288A>G XP_011531111.1:n.5869+288A>G
NM_000384.3:c.6423A>G MANE Select NP_000375.3:p.Lys2141=
Search 100 bp 5'
Search 100 bp 3'