Canonical Allele Identifier: CA066888
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs777003657
ExAC: 2:21229894 A / T
gnomAD v2: 2-21229894-A-T
gnomAD v4: 2-21007022-A-T
MyVariant Identifiers: chr2:g.21229894A>T (hg19) chr2:g.21007022A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21007022A>T , CM000664.2:g.21007022A>T GRCh38
NC_000002.11:g.21229894A>T , CM000664.1:g.21229894A>T GRCh37
NC_000002.10:g.21083399A>T NCBI36
NG_011793.1:g.42052T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.9846T>A MANE Select ENSP00000233242.1:p.Ser3282Arg
ENST00000616098.4:c.9846T>A ENSP00000477990.1:p.Ser3282Arg
NM_000384.2:c.9846T>A NP_000375.2:p.Ser3282Arg
XM_011532809.1:c.5869+3711T>A XP_011531111.1:n.5869+3711T>A
NM_000384.3:c.9846T>A MANE Select NP_000375.3:p.Ser3282Arg
Search 100 bp 5'
Search 100 bp 3'