Canonical Allele Identifier: CA044247
Gene: APOB HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.21006211C>T
GRCh37 chr2:g.21229083C>T
Revel Score:
ENST00000233242 (MANE Select) 0.597
ENST00000535079 0.597
gnomAD v2:
2:21229083 C / T
gnomAD v3:
2:21006211 C / T
gnomAD v4:
chr2-21006211-C-T
Joint Max Group AF 0.00000878 (NFE)
Exomes Max Group AF 0.00000852 (NFE)
ClinVar Allele:
434171
ClinVar RCV:
RCV000508761
ClinVar Variation:
440521
dbSNP:
763118165
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21006211C>T , CM000664.2:g.21006211C>T GRCh38
NC_000002.11:g.21229083C>T , CM000664.1:g.21229083C>T GRCh37
NC_000002.10:g.21082588C>T NCBI36
NG_011793.1:g.42863G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.10657G>A MANE Select ENSP00000233242.1:p.Glu3553Lys
ENST00000616098.4:c.10657G>A ENSP00000477990.1:p.Glu3553Lys
NM_000384.2:c.10657G>A NP_000375.2:p.Glu3553Lys
XM_011532809.1:c.5869+4522G>A XP_011531111.1:n.5869+4522G>A
NM_000384.3:c.10657G>A MANE Select NP_000375.3:p.Glu3553Lys
Search 100 bp 5'
Search 100 bp 3'