Canonical Allele Identifier: CA051498
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs749528138
ExAC: 2:21225359 T / A
gnomAD v2: 2-21225359-T-A
gnomAD v4: 2-21002487-T-A
MyVariant Identifiers: chr2:g.21225359T>A (hg19) chr2:g.21002487T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002487T>A , CM000664.2:g.21002487T>A GRCh38
NC_000002.11:g.21225359T>A , CM000664.1:g.21225359T>A GRCh37
NC_000002.10:g.21078864T>A NCBI36
NG_011793.1:g.46587A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.12935A>T MANE Select ENSP00000233242.1:p.Asp4312Val
ENST00000616098.4:c.12935A>T ENSP00000477990.1:p.Asp4312Val
NM_000384.2:c.12935A>T NP_000375.2:p.Asp4312Val
XM_011532809.1:c.5870-3214A>T XP_011531111.1:n.5870-3214A>T
NM_000384.3:c.12935A>T MANE Select NP_000375.3:p.Asp4312Val
Search 100 bp 5'
Search 100 bp 3'