Canonical Allele Identifier: CA052466
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs752665378
ExAC: 2:21224963 A / G
gnomAD v2: 2-21224963-A-G
gnomAD v4: 2-21002091-A-G
MyVariant Identifiers: chr2:g.21224963A>G (hg19) chr2:g.21002091A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002091A>G , CM000664.2:g.21002091A>G GRCh38
NC_000002.11:g.21224963A>G , CM000664.1:g.21224963A>G GRCh37
NC_000002.10:g.21078468A>G NCBI36
NG_011793.1:g.46983T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13331T>C MANE Select ENSP00000233242.1:p.Leu4444Pro
ENST00000616098.4:c.13329T>C ENSP00000477990.1:n.13329T>C
NM_000384.2:c.13331T>C NP_000375.2:p.Leu4444Pro
XM_011532809.1:c.5870-2818T>C XP_011531111.1:n.5870-2818T>C
NM_000384.3:c.13331T>C MANE Select NP_000375.3:p.Leu4444Pro
Search 100 bp 5'
Search 100 bp 3'