Canonical Allele Identifier: CA054518
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2930318
ClinVar RCV Id: RCV003787676
dbSNP Id: rs774406602
ExAC: 2:21251273 C / T
gnomAD v2: 2-21251273-C-T
gnomAD v3: 2-21028401-C-T
gnomAD v4: 2-21028401-C-T
MyVariant Identifiers: chr2:g.21251273C>T (hg19) chr2:g.21028401C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21028401C>T , CM000664.2:g.21028401C>T GRCh38
NC_000002.11:g.21251273C>T , CM000664.1:g.21251273C>T GRCh37
NC_000002.10:g.21104778C>T NCBI36
NG_011793.1:g.20673G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000673739.2:c.*1061G>A ENSP00000501110.2:n.*1061G>A
ENST00000673882.2:c.*1061G>A ENSP00000501253.2:n.*1061G>A
ENST00000673739.1:c.1469G>A ENSP00000501110.1:n.1469G>A
ENST00000673882.1:c.1469G>A ENSP00000501253.1:n.1469G>A
ENST00000233242.5:c.1755G>A MANE Select ENSP00000233242.1:p.Gln585=
ENST00000399256.4:c.1755G>A ENSP00000382200.4:p.Gln585=
ENST00000616098.4:c.1755G>A ENSP00000477990.1:p.Gln585=
NM_000384.2:c.1755G>A NP_000375.2:p.Gln585=
XM_011532809.1:c.1755G>A XP_011531111.1:p.Gln585=
NM_000384.3:c.1755G>A MANE Select NP_000375.3:p.Gln585=
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