Canonical Allele Identifier: CA043373
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 627775
ClinVar RCV Id: RCV001192835 RCV001838142 RCV002388392 RCV004540091
dbSNP Id: rs200305144
ExAC: 2:21229355 T / C
gnomAD v2: 2-21229355-T-C
gnomAD v3: 2-21006483-T-C
gnomAD v4: 2-21006483-T-C
MyVariant Identifiers: chr2:g.21229355T>C (hg19) chr2:g.21006483T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21006483T>C , CM000664.2:g.21006483T>C GRCh38
NC_000002.11:g.21229355T>C , CM000664.1:g.21229355T>C GRCh37
NC_000002.10:g.21082860T>C NCBI36
NG_011793.1:g.42591A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.10385A>G MANE Select ENSP00000233242.1:p.Tyr3462Cys
ENST00000616098.4:c.10385A>G ENSP00000477990.1:p.Tyr3462Cys
NM_000384.2:c.10385A>G NP_000375.2:p.Tyr3462Cys
XM_011532809.1:c.5869+4250A>G XP_011531111.1:n.5869+4250A>G
NM_000384.3:c.10385A>G MANE Select NP_000375.3:p.Tyr3462Cys
Search 100 bp 5'
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