Canonical Allele Identifier: CA406295499

Gene: APOC2 APOC4-APOC2

Linked Data

• ClinVar Variation Id: 2447634
• ClinVar RCV Id: RCV003165342
• MyVariant Identifiers: chr19:g.45452496G>A (hg19) ; chr19:g.44949239G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44949239G>A , CM000681.2:g.44949239G>A	GRCh38
NC_000019.9:g.45452496G>A , CM000681.1:g.45452496G>A	GRCh37
NC_000019.8:g.50144336G>A	NCBI36
NG_008837.1:g.8254G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252490.7:c.296G>A (APOC2) MANE Select	ENSP00000252490.5:p.Gly99Glu
ENST00000252490.5:c.296G>A (APOC4-APOC2)	ENSP00000252490.4:p.Gly99Glu
ENST00000585685.5:c.*1079G>A (APOC4-APOC2)	ENSP00000467185.1:n.*1079G>A
ENST00000585786.1:c.*375G>A (APOC2)	ENSP00000465001.1:n.*375G>A
ENST00000589057.5:c.527G>A (APOC4-APOC2)	ENSP00000468139.1:p.Gly176Glu
ENST00000590360.2:c.296G>A (APOC2)	ENSP00000466775.1:p.Gly99Glu
ENST00000591597.5:c.254G>A (APOC2)	ENSP00000476835.1:p.Gly85Glu
ENST00000592257.5:c.*90G>A (APOC2)	ENSP00000477261.1:n.*90G>A
NM_000483.4:c.296G>A (APOC2)	NP_000474.2:p.Gly99Glu
NR_037932.1:n.1503G>A (APOC4-APOC2)
NM_000483.5:c.296G>A (APOC2) MANE Select	NP_000474.2:p.Gly99Glu