Canonical Allele Identifier: CA060457
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1737634
ClinVar RCV Id: RCV002323124 RCV003775808
dbSNP Id: rs374558307
ExAC: 2:21236168 C / T
gnomAD v2: 2-21236168-C-T
gnomAD v3: 2-21013296-C-T
gnomAD v4: 2-21013296-C-T
COSMIC: COSM2716194
MyVariant Identifiers: chr2:g.21236168C>T (hg19) chr2:g.21013296C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21013296C>T , CM000664.2:g.21013296C>T GRCh38
NC_000002.11:g.21236168C>T , CM000664.1:g.21236168C>T GRCh37
NC_000002.10:g.21089673C>T NCBI36
NG_011793.1:g.35778G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*3386G>A ENSP00000501110.2:n.*3386G>A
ENST00000673739.1:c.3794G>A ENSP00000501110.1:n.3794G>A
ENST00000233242.5:c.4080G>A MANE Select ENSP00000233242.1:p.Thr1360=
ENST00000616098.4:c.4080G>A ENSP00000477990.1:p.Thr1360=
NM_000384.2:c.4080G>A NP_000375.2:p.Thr1360=
XM_011532809.1:c.4080G>A XP_011531111.1:p.Thr1360=
NM_000384.3:c.4080G>A MANE Select NP_000375.3:p.Thr1360=
Search 100 bp 5'
Search 100 bp 3'