Canonical Allele Identifier: CA115623
Gene: APOC2 HGNC NCBI
APOC4-APOC2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.44948823G>A
GRCh37 chr19:g.45452080G>A
Revel Score:
ENST00000252490 (MANE Select) 0.262
gnomAD v2:
19:45452080 G / A
gnomAD v3:
19:44948823 G / A
gnomAD v4:
chr19-44948823-G-A
Joint Max Group AF 0.00631036 (AFR)
Genomes Max Group AF 0.00648065 (AFR)
Exomes Max Group AF 0.00566142 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44948823G>A , CM000681.2:g.44948823G>A GRCh38
NC_000019.9:g.45452080G>A , CM000681.1:g.45452080G>A GRCh37
NC_000019.8:g.50143920G>A NCBI36
NG_008837.1:g.7838G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252490.7:c.178G>A (APOC2) MANE Select ENSP00000252490.5:p.Glu60Lys
ENST00000252490.5:c.178G>A (APOC4-APOC2) ENSP00000252490.4:p.Glu60Lys
ENST00000585685.5:c.*961G>A (APOC4-APOC2) ENSP00000467185.1:n.*961G>A
ENST00000585786.1:c.178G>A (APOC2) ENSP00000465001.1:p.Glu60Lys
ENST00000589057.5:c.409G>A (APOC4-APOC2) ENSP00000468139.1:p.Glu137Lys
ENST00000590360.2:c.178G>A (APOC2) ENSP00000466775.1:p.Glu60Lys
ENST00000591597.5:c.173+5G>A (APOC2) ENSP00000476835.1:n.173+5G>A
ENST00000592257.5:c.116G>A (APOC2) ENSP00000477261.1:p.Arg39Gln
NM_000483.4:c.178G>A (APOC2) NP_000474.2:p.Glu60Lys
NR_037932.1:n.1385G>A (APOC4-APOC2)
NM_000483.5:c.178G>A (APOC2) MANE Select NP_000474.2:p.Glu60Lys
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