Canonical Allele Identifier: CA058842
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 237744
ClinVar RCV Id: RCV000456004 RCV000497223 RCV000771109 RCV000845457 RCV001137957 RCV002227096 RCV001837776 RCV002450671 RCV004529389
dbSNP Id: rs72653077
ExAC: 2:21238323 G / A
gnomAD v2: 2-21238323-G-A
gnomAD v3: 2-21015451-G-A
gnomAD v4: 2-21015451-G-A
MyVariant Identifiers: chr2:g.21238323G>A (hg19) chr2:g.21015451G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21015451G>A , CM000664.2:g.21015451G>A GRCh38
NC_000002.11:g.21238323G>A , CM000664.1:g.21238323G>A GRCh37
NC_000002.10:g.21091828G>A NCBI36
NG_011793.1:g.33623C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*2733C>T ENSP00000501110.2:n.*2733C>T
ENST00000673882.2:c.*2522C>T ENSP00000501253.2:n.*2522C>T
ENST00000673739.1:c.3141C>T ENSP00000501110.1:n.3141C>T
ENST00000673882.1:c.2930C>T ENSP00000501253.1:n.2930C>T
ENST00000233242.5:c.3427C>T MANE Select ENSP00000233242.1:p.Pro1143Ser
ENST00000616098.4:c.3427C>T ENSP00000477990.1:p.Pro1143Ser
NM_000384.2:c.3427C>T NP_000375.2:p.Pro1143Ser
XM_011532809.1:c.3427C>T XP_011531111.1:p.Pro1143Ser
NM_000384.3:c.3427C>T MANE Select NP_000375.3:p.Pro1143Ser
Search 100 bp 5'
Search 100 bp 3'