Canonical Allele Identifier: CA531312744
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1445489684
gnomAD v2: 2-21232512-T-TA
gnomAD v4: 2-21009640-T-TA
MyVariant Identifiers: chr2:g.21232512_21232513insA (hg19) chr2:g.21009640_21009641insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21009644dup , CM000664.2:g.21009644dup GRCh38
NC_000002.11:g.21232516dup , CM000664.1:g.21232516dup GRCh37
NC_000002.10:g.21086021dup NCBI36
NG_011793.1:g.39433dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.7227dup MANE Select ENSP00000233242.1:p.Lys2410Ter
ENST00000616098.4:c.7227dup ENSP00000477990.1:p.Lys2410Ter
NM_000384.2:c.7227dup NP_000375.2:p.Lys2410Ter
XM_011532809.1:c.5869+1092dup XP_011531111.1:n.5869+1092dup
NM_000384.3:c.7227dup MANE Select NP_000375.3:p.Lys2410Ter
Search 100 bp 5'
Search 100 bp 3'