Canonical Allele Identifier: CA063487
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 918464
ClinVar RCV Id: RCV002365836 RCV003769870
dbSNP Id: rs758442604
ExAC: 2:21232986 C / A
gnomAD v2: 2-21232986-C-A
gnomAD v3: 2-21010114-C-A
gnomAD v4: 2-21010114-C-A
MyVariant Identifiers: chr2:g.21232986C>A (hg19) chr2:g.21010114C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010114C>A , CM000664.2:g.21010114C>A GRCh38
NC_000002.11:g.21232986C>A , CM000664.1:g.21232986C>A GRCh37
NC_000002.10:g.21086491C>A NCBI36
NG_011793.1:g.38960G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6754G>T MANE Select ENSP00000233242.1:p.Val2252Leu
ENST00000616098.4:c.6754G>T ENSP00000477990.1:p.Val2252Leu
NM_000384.2:c.6754G>T NP_000375.2:p.Val2252Leu
XM_011532809.1:c.5869+619G>T XP_011531111.1:n.5869+619G>T
NM_000384.3:c.6754G>T MANE Select NP_000375.3:p.Val2252Leu
Search 100 bp 5'
Search 100 bp 3'