Canonical Allele Identifier: CA531312790
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2107678
ClinVar RCV Id: RCV003029291
dbSNP Id: rs753210710
gnomAD v2: 2-21238152-A-T
gnomAD v3: 2-21015280-A-T
gnomAD v4: 2-21015280-A-T
MyVariant Identifiers: chr2:g.21238152A>T (hg19) chr2:g.21015280A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21015280A>T , CM000664.2:g.21015280A>T GRCh38
NC_000002.11:g.21238152A>T , CM000664.1:g.21238152A>T GRCh37
NC_000002.10:g.21091657A>T NCBI36
NG_011793.1:g.33794T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*2815-20T>A ENSP00000501110.2:n.*2815-20T>A
ENST00000673882.2:c.*2604-20T>A ENSP00000501253.2:n.*2604-20T>A
ENST00000673739.1:c.3223-20T>A ENSP00000501110.1:n.3223-20T>A
ENST00000673882.1:c.3012-20T>A ENSP00000501253.1:n.3012-20T>A
ENST00000233242.5:c.3509-20T>A MANE Select ENSP00000233242.1:n.3509-20T>A
ENST00000616098.4:c.3509-20T>A ENSP00000477990.1:n.3509-20T>A
NM_000384.2:c.3509-20T>A NP_000375.2:n.3509-20T>A
XM_011532809.1:c.3509-20T>A XP_011531111.1:n.3509-20T>A
NM_000384.3:c.3509-20T>A MANE Select NP_000375.3:n.3509-20T>A
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