Canonical Allele Identifier: CA064231
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 925408
ClinVar RCV Id: RCV003106144
dbSNP Id: rs200759464
ExAC: 2:21232499 T / A
gnomAD v2: 2-21232499-T-A
gnomAD v3: 2-21009627-T-A
gnomAD v4: 2-21009627-T-A
MyVariant Identifiers: chr2:g.21232499T>A (hg19) chr2:g.21009627T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21009627T>A , CM000664.2:g.21009627T>A GRCh38
NC_000002.11:g.21232499T>A , CM000664.1:g.21232499T>A GRCh37
NC_000002.10:g.21086004T>A NCBI36
NG_011793.1:g.39447A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.7241A>T MANE Select ENSP00000233242.1:p.Glu2414Val
ENST00000616098.4:c.7241A>T ENSP00000477990.1:p.Glu2414Val
NM_000384.2:c.7241A>T NP_000375.2:p.Glu2414Val
XM_011532809.1:c.5869+1106A>T XP_011531111.1:n.5869+1106A>T
NM_000384.3:c.7241A>T MANE Select NP_000375.3:p.Glu2414Val
Search 100 bp 5'
Search 100 bp 3'