Canonical Allele Identifier: CA9506642
Gene: APOC2 HGNC NCBI
APOC4-APOC2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.44949187A>G
GRCh37 chr19:g.45452444A>G
Revel Score:
ENST00000252490 (MANE Select) 0.068
gnomAD v2:
19:45452444 A / G
gnomAD v3:
19:44949187 A / G
gnomAD v4:
chr19-44949187-A-G
Joint Max Group AF 0.00014505 (SAS)
Genomes Max Group AF 0.00007301 (SAS)
Exomes Max Group AF 0.00013408 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44949187A>G , CM000681.2:g.44949187A>G GRCh38
NC_000019.9:g.45452444A>G , CM000681.1:g.45452444A>G GRCh37
NC_000019.8:g.50144284A>G NCBI36
NG_008837.1:g.8202A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252490.7:c.244A>G (APOC2) MANE Select ENSP00000252490.5:p.Met82Val
ENST00000252490.5:c.244A>G (APOC4-APOC2) ENSP00000252490.4:p.Met82Val
ENST00000585685.5:c.*1027A>G (APOC4-APOC2) ENSP00000467185.1:n.*1027A>G
ENST00000585786.1:c.*323A>G (APOC2) ENSP00000465001.1:n.*323A>G
ENST00000589057.5:c.475A>G (APOC4-APOC2) ENSP00000468139.1:p.Met159Val
ENST00000590360.2:c.244A>G (APOC2) ENSP00000466775.1:p.Met82Val
ENST00000591597.5:c.202A>G (APOC2) ENSP00000476835.1:p.Met68Val
ENST00000592257.5:c.*38A>G (APOC2) ENSP00000477261.1:n.*38A>G
NM_000483.4:c.244A>G (APOC2) NP_000474.2:p.Met82Val
NR_037932.1:n.1451A>G (APOC4-APOC2)
NM_000483.5:c.244A>G (APOC2) MANE Select NP_000474.2:p.Met82Val
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