Canonical Allele Identifier: CA9506603
Gene: APOC2 HGNC NCBI
APOC4-APOC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 894242
ClinVar RCV Id: RCV001134431 RCV001700702
dbSNP Id: rs147242592
ExAC: 19:45451987 G / A
gnomAD v2: 19-45451987-G-A
gnomAD v3: 19-44948730-G-A
gnomAD v4: 19-44948730-G-A
MyVariant Identifiers: chr19:g.45451987G>A (hg19) chr19:g.44948730G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44948730G>A , CM000681.2:g.44948730G>A GRCh38
NC_000019.9:g.45451987G>A , CM000681.1:g.45451987G>A GRCh37
NC_000019.8:g.50143827G>A NCBI36
NG_008837.1:g.7745G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252490.7:c.85G>A (APOC2) MANE Select ENSP00000252490.5:p.Asp29Asn
ENST00000252490.5:c.85G>A (APOC4-APOC2) ENSP00000252490.4:p.Asp29Asn
ENST00000585685.5:c.*868G>A (APOC4-APOC2) ENSP00000467185.1:n.*868G>A
ENST00000585786.1:c.85G>A (APOC2) ENSP00000465001.1:p.Asp29Asn
ENST00000589057.5:c.316G>A (APOC4-APOC2) ENSP00000468139.1:p.Asp106Asn
ENST00000590360.2:c.85G>A (APOC2) ENSP00000466775.1:p.Asp29Asn
ENST00000591597.5:c.85G>A (APOC2) ENSP00000476835.1:p.Asp29Asn
ENST00000592257.5:c.56-33G>A (APOC2) ENSP00000477261.1:n.56-33G>A
NM_000483.4:c.85G>A (APOC2) NP_000474.2:p.Asp29Asn
NR_037932.1:n.1292G>A (APOC4-APOC2)
NM_000483.5:c.85G>A (APOC2) MANE Select NP_000474.2:p.Asp29Asn
Search 100 bp 5'
Search 100 bp 3'