Canonical Allele Identifier: CA425345689
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1558564103
gnomAD v2: 2-21233098-C-T
gnomAD v4: 2-21010226-C-T
MyVariant Identifiers: chr2:g.21233098C>T (hg19) chr2:g.21233098_21233101delinsTTCA (hg19) chr2:g.21010226_21010229delinsTTCA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010226C>T , CM000664.2:g.21010226C>T GRCh38
NC_000002.11:g.21233098C>T , CM000664.1:g.21233098C>T GRCh37
NC_000002.10:g.21086603C>T NCBI36
NG_011793.1:g.38848G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6642G>A MANE Select ENSP00000233242.1:p.Glu2214=
ENST00000616098.4:c.6642G>A ENSP00000477990.1:p.Glu2214=
NM_000384.2:c.6642G>A NP_000375.2:p.Glu2214=
XM_011532809.1:c.5869+507G>A XP_011531111.1:n.5869+507G>A
NM_000384.3:c.6642G>A MANE Select NP_000375.3:p.Glu2214=
Search 100 bp 5'
Search 100 bp 3'