Canonical Allele Identifier: CA15221080
Gene: APOB HGNC NCBI
dbSNP:
12714264
gnomAD v2:
2:21265518 A / T
gnomAD v3:
2:21042646 A / T
gnomAD v4:
chr2-21042646-A-T
Joint Max Group AF 0.12696182 (NFE)
Genomes Max Group AF 0.12696182 (NFE)
MyVariant.info:
GRCh38 chr2:g.21042646A>T
GRCh37 chr2:g.21265518A>T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21042646A>T , CM000664.2:g.21042646A>T GRCh38
NC_000002.11:g.21265518A>T , CM000664.1:g.21265518A>T GRCh37
NC_000002.10:g.21119023A>T NCBI36
NG_011793.1:g.6428T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.122-170T>A ENSP00000501110.2:n.122-170T>A
ENST00000673882.2:c.122-170T>A ENSP00000501253.2:n.122-170T>A
ENST00000233242.5:c.122-170T>A MANE Select ENSP00000233242.1:n.122-170T>A
ENST00000399256.4:c.122-170T>A ENSP00000382200.4:n.122-170T>A
ENST00000616098.4:c.122-170T>A ENSP00000477990.1:n.122-170T>A
NM_000384.2:c.122-170T>A NP_000375.2:n.122-170T>A
XM_011532809.1:c.122-170T>A XP_011531111.1:n.122-170T>A
NM_000384.3:c.122-170T>A MANE Select NP_000375.3:n.122-170T>A
Search 100 bp 5'
Search 100 bp 3'