Canonical Allele Identifier: CA531312754
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1309651662
gnomAD v2: 2-21233256-C-CA
gnomAD v4: 2-21010384-C-CA
MyVariant Identifiers: chr2:g.21233256_21233257insA (hg19) chr2:g.21010384_21010385insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010385dup , CM000664.2:g.21010385dup GRCh38
NC_000002.11:g.21233257dup , CM000664.1:g.21233257dup GRCh37
NC_000002.10:g.21086762dup NCBI36
NG_011793.1:g.38689dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6483dup MANE Select ENSP00000233242.1:p.Asp2162Ter
ENST00000616098.4:c.6483dup ENSP00000477990.1:p.Asp2162Ter
NM_000384.2:c.6483dup NP_000375.2:p.Asp2162Ter
XM_011532809.1:c.5869+348dup XP_011531111.1:n.5869+348dup
NM_000384.3:c.6483dup MANE Select NP_000375.3:p.Asp2162Ter
Search 100 bp 5'
Search 100 bp 3'