Canonical Allele Identifier: CA064348
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 255987
ClinVar RCV Id: RCV000244945 RCV000281029 RCV000423058 RCV001094685 RCV001837806 RCV002379075
dbSNP Id: rs12713675
ExAC: 2:21232373 G / T
gnomAD v2: 2-21232373-G-T
gnomAD v3: 2-21009501-G-T
gnomAD v4: 2-21009501-G-T
MyVariant Identifiers: chr2:g.21232373G>T (hg19) chr2:g.21009501G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21009501G>T , CM000664.2:g.21009501G>T GRCh38
NC_000002.11:g.21232373G>T , CM000664.1:g.21232373G>T GRCh37
NC_000002.10:g.21085878G>T NCBI36
NG_011793.1:g.39573C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.7367C>A MANE Select ENSP00000233242.1:p.Ala2456Asp
ENST00000616098.4:c.7367C>A ENSP00000477990.1:p.Ala2456Asp
NM_000384.2:c.7367C>A NP_000375.2:p.Ala2456Asp
XM_011532809.1:c.5869+1232C>A XP_011531111.1:n.5869+1232C>A
NM_000384.3:c.7367C>A MANE Select NP_000375.3:p.Ala2456Asp
Search 100 bp 5'
Search 100 bp 3'