Canonical Allele Identifier: CA9506566

Gene: APOC2 APOC4-APOC2

Linked Data

• ClinVar Variation Id: 1791964
• ClinVar RCV Id: RCV002430832 ; RCV003108107
• dbSNP Id: rs202190413
• ExAC: 19:45451745 C / G
• gnomAD v2: 19-45451745-C-G
• gnomAD v3: 19-44948488-C-G
• gnomAD v4: 19-44948488-C-G
• MyVariant Identifiers: chr19:g.45451745C>G (hg19) ; chr19:g.44948488C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44948488C>G , CM000681.2:g.44948488C>G	GRCh38
NC_000019.9:g.45451745C>G , CM000681.1:g.45451745C>G	GRCh37
NC_000019.8:g.50143585C>G	NCBI36
NG_008837.1:g.7503C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252490.7:c.10C>G (APOC2) MANE Select	ENSP00000252490.5:p.Arg4Gly
ENST00000252490.5:c.10C>G (APOC4-APOC2)	ENSP00000252490.4:p.Arg4Gly
ENST00000585685.5:c.*793C>G (APOC4-APOC2)	ENSP00000467185.1:n.*793C>G
ENST00000585786.1:c.10C>G (APOC2)	ENSP00000465001.1:p.Arg4Gly
ENST00000589057.5:c.241C>G (APOC4-APOC2)	ENSP00000468139.1:p.Arg81Gly
ENST00000590360.2:c.10C>G (APOC2)	ENSP00000466775.1:p.Arg4Gly
ENST00000591597.5:c.10C>G (APOC2)	ENSP00000476835.1:p.Arg4Gly
ENST00000592257.5:c.10C>G (APOC2)	ENSP00000477261.1:p.Arg4Gly
NM_000483.4:c.10C>G (APOC2)	NP_000474.2:p.Arg4Gly
NR_037932.1:n.1217C>G (APOC4-APOC2)
NM_000483.5:c.10C>G (APOC2) MANE Select	NP_000474.2:p.Arg4Gly