Canonical Allele Identifier: CA058782
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 630322
ClinVar RCV Id: RCV002332560 RCV002535541
dbSNP Id: rs778822926
ExAC: 2:21238335 C / T
gnomAD v2: 2-21238335-C-T
gnomAD v3: 2-21015463-C-T
gnomAD v4: 2-21015463-C-T
COSMIC: COSM3407548
MyVariant Identifiers: chr2:g.21238335C>T (hg19) chr2:g.21015463C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21015463C>T , CM000664.2:g.21015463C>T GRCh38
NC_000002.11:g.21238335C>T , CM000664.1:g.21238335C>T GRCh37
NC_000002.10:g.21091840C>T NCBI36
NG_011793.1:g.33611G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*2721G>A ENSP00000501110.2:n.*2721G>A
ENST00000673882.2:c.*2510G>A ENSP00000501253.2:n.*2510G>A
ENST00000673739.1:c.3129G>A ENSP00000501110.1:n.3129G>A
ENST00000673882.1:c.2918G>A ENSP00000501253.1:n.2918G>A
ENST00000233242.5:c.3415G>A MANE Select ENSP00000233242.1:p.Ala1139Thr
ENST00000616098.4:c.3415G>A ENSP00000477990.1:p.Ala1139Thr
NM_000384.2:c.3415G>A NP_000375.2:p.Ala1139Thr
XM_011532809.1:c.3415G>A XP_011531111.1:p.Ala1139Thr
NM_000384.3:c.3415G>A MANE Select NP_000375.3:p.Ala1139Thr
Search 100 bp 5'
Search 100 bp 3'