Canonical Allele Identifier: CA425342075
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1663003357
gnomAD v4: 2-21002267-A-C
MyVariant Identifiers: chr2:g.21225139A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002267A>C , CM000664.2:g.21002267A>C GRCh38
NC_000002.11:g.21225139A>C , CM000664.1:g.21225139A>C GRCh37
NC_000002.10:g.21078644A>C NCBI36
NG_011793.1:g.46807T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13155T>G MANE Select ENSP00000233242.1:p.Arg4385=
ENST00000616098.4:c.13153T>G ENSP00000477990.1:n.13153T>G
NM_000384.2:c.13155T>G NP_000375.2:p.Arg4385=
XM_011532809.1:c.5870-2994T>G XP_011531111.1:n.5870-2994T>G
NM_000384.3:c.13155T>G MANE Select NP_000375.3:p.Arg4385=