Canonical Allele Identifier: CA345968239
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21002190-A-T
MyVariant Identifiers: chr2:g.21225062A>T (hg19) chr2:g.21002190A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002190A>T , CM000664.2:g.21002190A>T GRCh38
NC_000002.11:g.21225062A>T , CM000664.1:g.21225062A>T GRCh37
NC_000002.10:g.21078567A>T NCBI36
NG_011793.1:g.46884T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13232T>A MANE Select ENSP00000233242.1:p.Ile4411Asn
ENST00000616098.4:c.13230T>A ENSP00000477990.1:n.13230T>A
NM_000384.2:c.13232T>A NP_000375.2:p.Ile4411Asn
XM_011532809.1:c.5870-2917T>A XP_011531111.1:n.5870-2917T>A
NM_000384.3:c.13232T>A MANE Select NP_000375.3:p.Ile4411Asn
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