Canonical Allele Identifier: CA346001749
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1436158536
gnomAD v3: 2-21010427-T-A
gnomAD v4: 2-21010427-T-A
MyVariant Identifiers: chr2:g.21233299T>A (hg19) chr2:g.21010427T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010427T>A , CM000664.2:g.21010427T>A GRCh38
NC_000002.11:g.21233299T>A , CM000664.1:g.21233299T>A GRCh37
NC_000002.10:g.21086804T>A NCBI36
NG_011793.1:g.38647A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6441A>T MANE Select ENSP00000233242.1:p.Lys2147Asn
ENST00000616098.4:c.6441A>T ENSP00000477990.1:p.Lys2147Asn
NM_000384.2:c.6441A>T NP_000375.2:p.Lys2147Asn
XM_011532809.1:c.5869+306A>T XP_011531111.1:n.5869+306A>T
NM_000384.3:c.6441A>T MANE Select NP_000375.3:p.Lys2147Asn
Search 100 bp 5'
Search 100 bp 3'