Canonical Allele Identifier: CA059187
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1485245
ClinVar RCV Id: RCV002008520 RCV002458937
dbSNP Id: rs745670004
ExAC: 2:21238051 A / G
gnomAD v2: 2-21238051-A-G
gnomAD v3: 2-21015179-A-G
gnomAD v4: 2-21015179-A-G
MyVariant Identifiers: chr2:g.21238051A>G (hg19) chr2:g.21015179A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21015179A>G , CM000664.2:g.21015179A>G GRCh38
NC_000002.11:g.21238051A>G , CM000664.1:g.21238051A>G GRCh37
NC_000002.10:g.21091556A>G NCBI36
NG_011793.1:g.33895T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000673739.2:c.*2896T>C ENSP00000501110.2:n.*2896T>C
ENST00000673882.2:c.*2685T>C ENSP00000501253.2:n.*2685T>C
ENST00000673739.1:c.3304T>C ENSP00000501110.1:n.3304T>C
ENST00000673882.1:c.3093T>C ENSP00000501253.1:n.3093T>C
ENST00000233242.5:c.3590T>C MANE Select ENSP00000233242.1:p.Leu1197Pro
ENST00000616098.4:c.3590T>C ENSP00000477990.1:p.Leu1197Pro
NM_000384.2:c.3590T>C NP_000375.2:p.Leu1197Pro
XM_011532809.1:c.3590T>C XP_011531111.1:p.Leu1197Pro
NM_000384.3:c.3590T>C MANE Select NP_000375.3:p.Leu1197Pro
Search 100 bp 5'
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