Canonical Allele Identifier: CA425346287
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2063237
ClinVar RCV Id: RCV002948306
MyVariant Identifiers: chr2:g.21233899T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21011027T>C , CM000664.2:g.21011027T>C GRCh38
NC_000002.11:g.21233899T>C , CM000664.1:g.21233899T>C GRCh37
NC_000002.10:g.21087404T>C NCBI36
NG_011793.1:g.38047A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.5841A>G MANE Select ENSP00000233242.1:p.Lys1947=
ENST00000616098.4:c.5841A>G ENSP00000477990.1:p.Lys1947=
NM_000384.2:c.5841A>G NP_000375.2:p.Lys1947=
XM_011532809.1:c.5841A>G XP_011531111.1:p.Lys1947=
NM_000384.3:c.5841A>G MANE Select NP_000375.3:p.Lys1947=