Canonical Allele Identifier: CA058680
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1730758
ClinVar RCV Id: RCV002451767 RCV003099436
dbSNP Id: rs762662376
ExAC: 2:21238377 A / C
gnomAD v2: 2-21238377-A-C
gnomAD v3: 2-21015505-A-C
gnomAD v4: 2-21015505-A-C
MyVariant Identifiers: chr2:g.21238377A>C (hg19) chr2:g.21015505A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21015505A>C , CM000664.2:g.21015505A>C GRCh38
NC_000002.11:g.21238377A>C , CM000664.1:g.21238377A>C GRCh37
NC_000002.10:g.21091882A>C NCBI36
NG_011793.1:g.33569T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*2679T>G ENSP00000501110.2:n.*2679T>G
ENST00000673882.2:c.*2468T>G ENSP00000501253.2:n.*2468T>G
ENST00000673739.1:c.3087T>G ENSP00000501110.1:n.3087T>G
ENST00000673882.1:c.2876T>G ENSP00000501253.1:n.2876T>G
ENST00000233242.5:c.3373T>G MANE Select ENSP00000233242.1:p.Ser1125Ala
ENST00000616098.4:c.3373T>G ENSP00000477990.1:p.Ser1125Ala
NM_000384.2:c.3373T>G NP_000375.2:p.Ser1125Ala
XM_011532809.1:c.3373T>G XP_011531111.1:p.Ser1125Ala
NM_000384.3:c.3373T>G MANE Select NP_000375.3:p.Ser1125Ala
Search 100 bp 5'
Search 100 bp 3'