Canonical Allele Identifier: CA2552482469
Gene: APOC2 HGNC NCBI
APOC4-APOC2 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44948875T>C , CM000681.2:g.44948875T>C GRCh38
NC_000019.9:g.45452132T>C , CM000681.1:g.45452132T>C GRCh37
NC_000019.8:g.50143972T>C NCBI36
NG_008837.1:g.7890T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252490.7:c.215+15T>C (APOC2) MANE Select ENSP00000252490.5:n.215+15T>C
ENST00000252490.5:c.215+15T>C (APOC4-APOC2) ENSP00000252490.4:n.215+15T>C
ENST00000585685.5:c.*998+15T>C (APOC4-APOC2) ENSP00000467185.1:n.*998+15T>C
ENST00000585786.1:c.*11T>C (APOC2) ENSP00000465001.1:n.*11T>C
ENST00000589057.5:c.446+15T>C (APOC4-APOC2) ENSP00000468139.1:n.446+15T>C
ENST00000590360.2:c.215+15T>C (APOC2) ENSP00000466775.1:n.215+15T>C
ENST00000591597.5:c.173+57T>C (APOC2) ENSP00000476835.1:n.173+57T>C
ENST00000592257.5:c.*9+15T>C (APOC2) ENSP00000477261.1:n.*9+15T>C
NM_000483.4:c.215+15T>C (APOC2) NP_000474.2:n.215+15T>C
NR_037932.1:n.1422+15T>C (APOC4-APOC2)
NM_000483.5:c.215+15T>C (APOC2) MANE Select NP_000474.2:n.215+15T>C