Canonical Allele Identifier: CA064225
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs766809314
ExAC: 2:21232500 C / G
gnomAD v2: 2-21232500-C-G
gnomAD v4: 2-21009628-C-G
MyVariant Identifiers: chr2:g.21232500C>G (hg19) chr2:g.21009628C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21009628C>G , CM000664.2:g.21009628C>G GRCh38
NC_000002.11:g.21232500C>G , CM000664.1:g.21232500C>G GRCh37
NC_000002.10:g.21086005C>G NCBI36
NG_011793.1:g.39446G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.7240G>C MANE Select ENSP00000233242.1:p.Glu2414Gln
ENST00000616098.4:c.7240G>C ENSP00000477990.1:p.Glu2414Gln
NM_000384.2:c.7240G>C NP_000375.2:p.Glu2414Gln
XM_011532809.1:c.5869+1105G>C XP_011531111.1:n.5869+1105G>C
NM_000384.3:c.7240G>C MANE Select NP_000375.3:p.Glu2414Gln
Search 100 bp 5'
Search 100 bp 3'