Canonical Allele Identifier: CA060801
Gene: APOB HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.21012594G>A
GRCh37 chr2:g.21235466G>A
Revel Score:
ENST00000233242 (MANE Select) 0.104
ENST00000535079 0.104
gnomAD v2:
2:21235466 G / A
gnomAD v3:
2:21012594 G / A
gnomAD v4:
chr2-21012594-G-A
Joint Max Group AF 0.00017994 (AMR)
Genomes Max Group AF 0.00017004 (AMR)
Exomes Max Group AF 0.00013741 (AMR)
ClinVar RCV:
RCV002330055
RCV003775854
ClinVar Variation:
1739280
dbSNP:
767810570
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21012594G>A , CM000664.2:g.21012594G>A GRCh38
NC_000002.11:g.21235466G>A , CM000664.1:g.21235466G>A GRCh37
NC_000002.10:g.21088971G>A NCBI36
NG_011793.1:g.36480C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*3580C>T ENSP00000501110.2:n.*3580C>T
ENST00000673739.1:c.3988C>T ENSP00000501110.1:n.3988C>T
ENST00000233242.5:c.4274C>T MANE Select ENSP00000233242.1:p.Ser1425Phe
ENST00000616098.4:c.4274C>T ENSP00000477990.1:p.Ser1425Phe
NM_000384.2:c.4274C>T NP_000375.2:p.Ser1425Phe
XM_011532809.1:c.4274C>T XP_011531111.1:p.Ser1425Phe
NM_000384.3:c.4274C>T MANE Select NP_000375.3:p.Ser1425Phe
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