Canonical Allele Identifier: CA057430
Gene: APOB HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.21019859G>A
GRCh37 chr2:g.21242731G>A
Revel Score:
ENST00000233242 (MANE Select) 0.064
ENST00000535079 0.064
gnomAD v2:
2:21242731 G / A
gnomAD v3:
2:21019859 G / A
gnomAD v4:
chr2-21019859-G-A
Joint Max Group AF 0.01472693 (EAS)
Genomes Max Group AF 0.0046636 (EAS)
Exomes Max Group AF 0.01584233 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21019859G>A , CM000664.2:g.21019859G>A GRCh38
NC_000002.11:g.21242731G>A , CM000664.1:g.21242731G>A GRCh37
NC_000002.10:g.21096236G>A NCBI36
NG_011793.1:g.29215C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*2169C>T ENSP00000501110.2:n.*2169C>T
ENST00000673882.2:c.*2169C>T ENSP00000501253.2:n.*2169C>T
ENST00000673739.1:c.2577C>T ENSP00000501110.1:n.2577C>T
ENST00000673882.1:c.2577C>T ENSP00000501253.1:n.2577C>T
ENST00000233242.5:c.2863C>T MANE Select ENSP00000233242.1:p.Pro955Ser
ENST00000616098.4:c.2863C>T ENSP00000477990.1:p.Pro955Ser
NM_000384.2:c.2863C>T NP_000375.2:p.Pro955Ser
XM_011532809.1:c.2863C>T XP_011531111.1:p.Pro955Ser
NM_000384.3:c.2863C>T MANE Select NP_000375.3:p.Pro955Ser
Search 100 bp 5'
Search 100 bp 3'