Canonical Allele Identifier: CA406294490
Community Standard Title: NM_000483.5(APOC2):c.178G>C (p.Glu60Gln)
Gene: APOC2 HGNC NCBI
APOC4-APOC2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_000483.5:c.178G>C (APOC2) MANE Select NP_000474.2:p.Glu60Gln
ENST00000252490.7:c.178G>C (APOC2) MANE Select ENSP00000252490.5:p.Glu60Gln
NM_000483.4:c.178G>C (APOC2) NP_000474.2:p.Glu60Gln
NR_037932.1:n.1385G>C (APOC4-APOC2)
ENST00000252490.5:c.178G>C (APOC4-APOC2) ENSP00000252490.4:p.Glu60Gln
ENST00000585685.5:c.*961G>C (APOC4-APOC2) ENSP00000467185.1:n.*961G>C
ENST00000585786.1:c.178G>C (APOC2) ENSP00000465001.1:p.Glu60Gln
ENST00000589057.5:c.409G>C (APOC4-APOC2) ENSP00000468139.1:p.Glu137Gln
ENST00000590360.2:c.178G>C (APOC2) ENSP00000466775.1:p.Glu60Gln
ENST00000591597.5:c.173+5G>C (APOC2) ENSP00000476835.1:n.173+5G>C
ENST00000592257.5:c.116G>C (APOC2) ENSP00000477261.1:p.Arg39Pro