Canonical Allele Identifier: CA9506565
Gene: APOC2 HGNC NCBI
APOC4-APOC2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.44948486C>T
GRCh37 chr19:g.45451743C>T
Revel Score:
ENST00000252490 (MANE Select) 0.114
gnomAD v2:
19:45451743 C / T
gnomAD v3:
19:44948486 C / T
gnomAD v4:
chr19-44948486-C-T
Joint Max Group AF 0.00429987 (AFR)
Genomes Max Group AF 0.00361082 (AFR)
Exomes Max Group AF 0.00479064 (AFR)
ClinVar RCV:
RCV002096391
RCV002372927
ClinVar Variation:
1591835
dbSNP:
148343756
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44948486C>T , CM000681.2:g.44948486C>T GRCh38
NC_000019.9:g.45451743C>T , CM000681.1:g.45451743C>T GRCh37
NC_000019.8:g.50143583C>T NCBI36
NG_008837.1:g.7501C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252490.7:c.8C>T (APOC2) MANE Select ENSP00000252490.5:p.Thr3Ile
ENST00000252490.5:c.8C>T (APOC4-APOC2) ENSP00000252490.4:p.Thr3Ile
ENST00000585685.5:c.*791C>T (APOC4-APOC2) ENSP00000467185.1:n.*791C>T
ENST00000585786.1:c.8C>T (APOC2) ENSP00000465001.1:p.Thr3Ile
ENST00000589057.5:c.239C>T (APOC4-APOC2) ENSP00000468139.1:p.Thr80Ile
ENST00000590360.2:c.8C>T (APOC2) ENSP00000466775.1:p.Thr3Ile
ENST00000591597.5:c.8C>T (APOC2) ENSP00000476835.1:p.Thr3Ile
ENST00000592257.5:c.8C>T (APOC2) ENSP00000477261.1:p.Thr3Ile
NM_000483.4:c.8C>T (APOC2) NP_000474.2:p.Thr3Ile
NR_037932.1:n.1215C>T (APOC4-APOC2)
NM_000483.5:c.8C>T (APOC2) MANE Select NP_000474.2:p.Thr3Ile
Search 100 bp 5'
Search 100 bp 3'