Canonical Allele Identifier: CA345969743
Gene: APOB HGNC NCBI

Linked Data

gnomAD v2: 2-21225264-C-T
MyVariant Identifiers: chr2:g.21225264C>T (hg19) chr2:g.21225264_21225266delinsTAT (hg19) chr2:g.21002392C>T (hg38) chr2:g.21002392_21002394delinsTAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002392C>T , CM000664.2:g.21002392C>T GRCh38
NC_000002.11:g.21225264C>T , CM000664.1:g.21225264C>T GRCh37
NC_000002.10:g.21078769C>T NCBI36
NG_011793.1:g.46682G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13030G>A MANE Select ENSP00000233242.1:p.Val4344Ile
ENST00000616098.4:c.13028G>A ENSP00000477990.1:p.Cys4343Tyr
NM_000384.2:c.13030G>A NP_000375.2:p.Val4344Ile
XM_011532809.1:c.5870-3119G>A XP_011531111.1:n.5870-3119G>A
NM_000384.3:c.13030G>A MANE Select NP_000375.3:p.Val4344Ile
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Search 100 bp 3'