Canonical Allele Identifier: CA346000870
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21010144-C-G
MyVariant Identifiers: chr2:g.21233016C>G (hg19) chr2:g.21010144C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010144C>G , CM000664.2:g.21010144C>G GRCh38
NC_000002.11:g.21233016C>G , CM000664.1:g.21233016C>G GRCh37
NC_000002.10:g.21086521C>G NCBI36
NG_011793.1:g.38930G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6724G>C MANE Select ENSP00000233242.1:p.Gly2242Arg
ENST00000616098.4:c.6724G>C ENSP00000477990.1:p.Gly2242Arg
NM_000384.2:c.6724G>C NP_000375.2:p.Gly2242Arg
XM_011532809.1:c.5869+589G>C XP_011531111.1:n.5869+589G>C
NM_000384.3:c.6724G>C MANE Select NP_000375.3:p.Gly2242Arg
Search 100 bp 5'
Search 100 bp 3'