Canonical Allele Identifier: CA052316
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2080508
ClinVar RCV Id: RCV002983122 RCV003308397 RCV003738290
dbSNP Id: rs149182045
ExAC: 2:21225026 G / C
gnomAD v2: 2-21225026-G-C
gnomAD v3: 2-21002154-G-C
gnomAD v4: 2-21002154-G-C
MyVariant Identifiers: chr2:g.21225026G>C (hg19) chr2:g.21002154G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002154G>C , CM000664.2:g.21002154G>C GRCh38
NC_000002.11:g.21225026G>C , CM000664.1:g.21225026G>C GRCh37
NC_000002.10:g.21078531G>C NCBI36
NG_011793.1:g.46920C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13268C>G MANE Select ENSP00000233242.1:p.Ser4423Cys
ENST00000616098.4:c.13266C>G ENSP00000477990.1:n.13266C>G
NM_000384.2:c.13268C>G NP_000375.2:p.Ser4423Cys
XM_011532809.1:c.5870-2881C>G XP_011531111.1:n.5870-2881C>G
NM_000384.3:c.13268C>G MANE Select NP_000375.3:p.Ser4423Cys
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