Canonical Allele Identifier: CA406292005

Gene: APOC2 APOC4-APOC2

Linked Data

• ClinVar Variation Id: 1746700
• ClinVar RCV Id: RCV002344589
• dbSNP Id: rs1970347563
• MyVariant Identifiers: chr19:g.45451787T>G (hg19) ; chr19:g.44948530T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44948530T>G , CM000681.2:g.44948530T>G	GRCh38
NC_000019.9:g.45451787T>G , CM000681.1:g.45451787T>G	GRCh37
NC_000019.8:g.50143627T>G	NCBI36
NG_008837.1:g.7545T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252490.7:c.52T>G (APOC2) MANE Select	ENSP00000252490.5:p.Phe18Val
ENST00000252490.5:c.52T>G (APOC4-APOC2)	ENSP00000252490.4:p.Phe18Val
ENST00000585685.5:c.*835T>G (APOC4-APOC2)	ENSP00000467185.1:n.*835T>G
ENST00000585786.1:c.52T>G (APOC2)	ENSP00000465001.1:p.Phe18Val
ENST00000589057.5:c.283T>G (APOC4-APOC2)	ENSP00000468139.1:p.Phe95Val
ENST00000590360.2:c.52T>G (APOC2)	ENSP00000466775.1:p.Phe18Val
ENST00000591597.5:c.52T>G (APOC2)	ENSP00000476835.1:p.Phe18Val
ENST00000592257.5:c.52T>G (APOC2)	ENSP00000477261.1:p.Phe18Val
NM_000483.4:c.52T>G (APOC2)	NP_000474.2:p.Phe18Val
NR_037932.1:n.1259T>G (APOC4-APOC2)
NM_000483.5:c.52T>G (APOC2) MANE Select	NP_000474.2:p.Phe18Val