Canonical Allele Identifier: CA058851
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 922444
ClinVar RCV Id: RCV002339457 RCV002559033
dbSNP Id: rs758023800
ExAC: 2:21238319 G / T
gnomAD v2: 2-21238319-G-T
gnomAD v4: 2-21015447-G-T
MyVariant Identifiers: chr2:g.21238319G>T (hg19) chr2:g.21015447G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21015447G>T , CM000664.2:g.21015447G>T GRCh38
NC_000002.11:g.21238319G>T , CM000664.1:g.21238319G>T GRCh37
NC_000002.10:g.21091824G>T NCBI36
NG_011793.1:g.33627C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*2737C>A ENSP00000501110.2:n.*2737C>A
ENST00000673882.2:c.*2526C>A ENSP00000501253.2:n.*2526C>A
ENST00000673739.1:c.3145C>A ENSP00000501110.1:n.3145C>A
ENST00000673882.1:c.2934C>A ENSP00000501253.1:n.2934C>A
ENST00000233242.5:c.3431C>A MANE Select ENSP00000233242.1:p.Ala1144Asp
ENST00000616098.4:c.3431C>A ENSP00000477990.1:p.Ala1144Asp
NM_000384.2:c.3431C>A NP_000375.2:p.Ala1144Asp
XM_011532809.1:c.3431C>A XP_011531111.1:p.Ala1144Asp
NM_000384.3:c.3431C>A MANE Select NP_000375.3:p.Ala1144Asp
Search 100 bp 5'
Search 100 bp 3'