Canonical Allele Identifier: CA050830
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs568054660
ExAC: 2:21225615 C / T
gnomAD v2: 2-21225615-C-T
gnomAD v3: 2-21002743-C-T
gnomAD v4: 2-21002743-C-T
MyVariant Identifiers: chr2:g.21225615C>T (hg19) chr2:g.21002743C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002743C>T , CM000664.2:g.21002743C>T GRCh38
NC_000002.11:g.21225615C>T , CM000664.1:g.21225615C>T GRCh37
NC_000002.10:g.21079120C>T NCBI36
NG_011793.1:g.46331G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.12679G>A MANE Select ENSP00000233242.1:p.Val4227Ile
ENST00000616098.4:c.12679G>A ENSP00000477990.1:p.Val4227Ile
NM_000384.2:c.12679G>A NP_000375.2:p.Val4227Ile
XM_011532809.1:c.5870-3470G>A XP_011531111.1:n.5870-3470G>A
NM_000384.3:c.12679G>A MANE Select NP_000375.3:p.Val4227Ile
Search 100 bp 5'
Search 100 bp 3'