Canonical Allele Identifier: CA308876084
Gene: APOC2 HGNC NCBI
APOC4-APOC2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.44949098A>C
GRCh37 chr19:g.45452355A>C
gnomAD v2:
19:45452355 A / C
gnomAD v3:
19:44949098 A / C
gnomAD v4:
chr19-44949098-A-C
Joint Max Group AF 0.01188937 (AFR)
Genomes Max Group AF 0.01255773 (AFR)
Exomes Max Group AF 0.01040056 (AFR)
ClinVar RCV:
RCV001658861
ClinVar Variation:
1254679
dbSNP:
180809422
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44949098A>C , CM000681.2:g.44949098A>C GRCh38
NC_000019.9:g.45452355A>C , CM000681.1:g.45452355A>C GRCh37
NC_000019.8:g.50144195A>C NCBI36
NG_008837.1:g.8113A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252490.7:c.216-61A>C (APOC2) MANE Select ENSP00000252490.5:n.216-61A>C
ENST00000252490.5:c.216-61A>C (APOC4-APOC2) ENSP00000252490.4:n.216-61A>C
ENST00000585685.5:c.*999-61A>C (APOC4-APOC2) ENSP00000467185.1:n.*999-61A>C
ENST00000585786.1:c.*234A>C (APOC2) ENSP00000465001.1:n.*234A>C
ENST00000589057.5:c.447-61A>C (APOC4-APOC2) ENSP00000468139.1:n.447-61A>C
ENST00000590360.2:c.216-61A>C (APOC2) ENSP00000466775.1:n.216-61A>C
ENST00000591597.5:c.174-61A>C (APOC2) ENSP00000476835.1:n.174-61A>C
ENST00000592257.5:c.*10-61A>C (APOC2) ENSP00000477261.1:n.*10-61A>C
NM_000483.4:c.216-61A>C (APOC2) NP_000474.2:n.216-61A>C
NR_037932.1:n.1423-61A>C (APOC4-APOC2)
NM_000483.5:c.216-61A>C (APOC2) MANE Select NP_000474.2:n.216-61A>C
Search 100 bp 5'
Search 100 bp 3'