Canonical Allele Identifier: CA425342072
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1380682815
gnomAD v2: 2-21225136-T-C
gnomAD v4: 2-21002264-T-C
MyVariant Identifiers: chr2:g.21225136T>C (hg19) chr2:g.21002264T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002264T>C , CM000664.2:g.21002264T>C GRCh38
NC_000002.11:g.21225136T>C , CM000664.1:g.21225136T>C GRCh37
NC_000002.10:g.21078641T>C NCBI36
NG_011793.1:g.46810A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13158A>G MANE Select ENSP00000233242.1:p.Glu4386=
ENST00000616098.4:c.13156A>G ENSP00000477990.1:n.13156A>G
NM_000384.2:c.13158A>G NP_000375.2:p.Glu4386=
XM_011532809.1:c.5870-2991A>G XP_011531111.1:n.5870-2991A>G
NM_000384.3:c.13158A>G MANE Select NP_000375.3:p.Glu4386=
Search 100 bp 5'
Search 100 bp 3'