Canonical Allele Identifier: CA058667
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2926454
ClinVar RCV Id: RCV003788692
dbSNP Id: rs765952330
ExAC: 2:21238386 C / T
gnomAD v2: 2-21238386-C-T
gnomAD v4: 2-21015514-C-T
MyVariant Identifiers: chr2:g.21238386C>T (hg19) chr2:g.21015514C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21015514C>T , CM000664.2:g.21015514C>T GRCh38
NC_000002.11:g.21238386C>T , CM000664.1:g.21238386C>T GRCh37
NC_000002.10:g.21091891C>T NCBI36
NG_011793.1:g.33560G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*2670G>A ENSP00000501110.2:n.*2670G>A
ENST00000673882.2:c.*2459G>A ENSP00000501253.2:n.*2459G>A
ENST00000673739.1:c.3078G>A ENSP00000501110.1:n.3078G>A
ENST00000673882.1:c.2867G>A ENSP00000501253.1:n.2867G>A
ENST00000233242.5:c.3364G>A MANE Select ENSP00000233242.1:p.Gly1122Ser
ENST00000616098.4:c.3364G>A ENSP00000477990.1:p.Gly1122Ser
NM_000384.2:c.3364G>A NP_000375.2:p.Gly1122Ser
XM_011532809.1:c.3364G>A XP_011531111.1:p.Gly1122Ser
NM_000384.3:c.3364G>A MANE Select NP_000375.3:p.Gly1122Ser
Search 100 bp 5'
Search 100 bp 3'