Canonical Allele Identifier: CA059218
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 334152
ClinVar RCV Id: RCV001837865 RCV002450903 RCV003477899
dbSNP Id: rs375894411
ExAC: 2:21238046 C / T
gnomAD v2: 2-21238046-C-T
gnomAD v3: 2-21015174-C-T
gnomAD v4: 2-21015174-C-T
MyVariant Identifiers: chr2:g.21238046C>T (hg19) chr2:g.21015174C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21015174C>T , CM000664.2:g.21015174C>T GRCh38
NC_000002.11:g.21238046C>T , CM000664.1:g.21238046C>T GRCh37
NC_000002.10:g.21091551C>T NCBI36
NG_011793.1:g.33900G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000673739.2:c.*2901G>A ENSP00000501110.2:n.*2901G>A
ENST00000673882.2:c.*2690G>A ENSP00000501253.2:n.*2690G>A
ENST00000673739.1:c.3309G>A ENSP00000501110.1:n.3309G>A
ENST00000673882.1:c.3098G>A ENSP00000501253.1:n.3098G>A
ENST00000233242.5:c.3595G>A MANE Select ENSP00000233242.1:p.Asp1199Asn
ENST00000616098.4:c.3595G>A ENSP00000477990.1:p.Asp1199Asn
NM_000384.2:c.3595G>A NP_000375.2:p.Asp1199Asn
XM_011532809.1:c.3595G>A XP_011531111.1:p.Asp1199Asn
NM_000384.3:c.3595G>A MANE Select NP_000375.3:p.Asp1199Asn
Search 100 bp 5'
Search 100 bp 3'