Canonical Allele Identifier: CA115614

Gene: APOC2 APOC4-APOC2

Linked Data

• ClinVar Variation Id: 2573
• ClinVar RCV Id: RCV000002682 ; RCV000974450 ; RCV000991188
• dbSNP Id: rs5126
• ExAC: 19:45452429 A / C
• gnomAD v2: 19-45452429-A-C
• gnomAD v3: 19-44949172-A-C
• gnomAD v4: 19-44949172-A-C
• MyVariant Identifiers: chr19:g.45452429A>C (hg19) ; chr19:g.44949172A>C (hg38)
• PubMed: PMID:3944271

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44949172A>C , CM000681.2:g.44949172A>C	GRCh38
NC_000019.9:g.45452429A>C , CM000681.1:g.45452429A>C	GRCh37
NC_000019.8:g.50144269A>C	NCBI36
NG_008837.1:g.8187A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252490.7:c.229A>C (APOC2) MANE Select	ENSP00000252490.5:p.Lys77Gln
ENST00000252490.5:c.229A>C (APOC4-APOC2)	ENSP00000252490.4:p.Lys77Gln
ENST00000585685.5:c.*1012A>C (APOC4-APOC2)	ENSP00000467185.1:n.*1012A>C
ENST00000585786.1:c.*308A>C (APOC2)	ENSP00000465001.1:n.*308A>C
ENST00000589057.5:c.460A>C (APOC4-APOC2)	ENSP00000468139.1:p.Lys154Gln
ENST00000590360.2:c.229A>C (APOC2)	ENSP00000466775.1:p.Lys77Gln
ENST00000591597.5:c.187A>C (APOC2)	ENSP00000476835.1:p.Lys63Gln
ENST00000592257.5:c.*23A>C (APOC2)	ENSP00000477261.1:n.*23A>C
NM_000483.4:c.229A>C (APOC2)	NP_000474.2:p.Lys77Gln
NR_037932.1:n.1436A>C (APOC4-APOC2)
NM_000483.5:c.229A>C (APOC2) MANE Select	NP_000474.2:p.Lys77Gln