Canonical Allele Identifier: CA063112
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs776539320
ExAC: 2:21233403 C / T
gnomAD v2: 2-21233403-C-T
gnomAD v4: 2-21010531-C-T
MyVariant Identifiers: chr2:g.21233403C>T (hg19) chr2:g.21010531C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010531C>T , CM000664.2:g.21010531C>T GRCh38
NC_000002.11:g.21233403C>T , CM000664.1:g.21233403C>T GRCh37
NC_000002.10:g.21086908C>T NCBI36
NG_011793.1:g.38543G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6337G>A MANE Select ENSP00000233242.1:p.Ala2113Thr
ENST00000616098.4:c.6337G>A ENSP00000477990.1:p.Ala2113Thr
NM_000384.2:c.6337G>A NP_000375.2:p.Ala2113Thr
XM_011532809.1:c.5869+202G>A XP_011531111.1:n.5869+202G>A
NM_000384.3:c.6337G>A MANE Select NP_000375.3:p.Ala2113Thr
Search 100 bp 5'
Search 100 bp 3'