Canonical Allele Identifier: CA406295265

Gene: APOC2 APOC4-APOC2

Linked Data

• ClinVar Variation Id: 2447635
• ClinVar RCV Id: RCV003176547
• MyVariant Identifiers: chr19:g.45452448G>C (hg19) ; chr19:g.44949191G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44949191G>C , CM000681.2:g.44949191G>C	GRCh38
NC_000019.9:g.45452448G>C , CM000681.1:g.45452448G>C	GRCh37
NC_000019.8:g.50144288G>C	NCBI36
NG_008837.1:g.8206G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252490.7:c.248G>C (APOC2) MANE Select	ENSP00000252490.5:p.Ser83Thr
ENST00000252490.5:c.248G>C (APOC4-APOC2)	ENSP00000252490.4:p.Ser83Thr
ENST00000585685.5:c.*1031G>C (APOC4-APOC2)	ENSP00000467185.1:n.*1031G>C
ENST00000585786.1:c.*327G>C (APOC2)	ENSP00000465001.1:n.*327G>C
ENST00000589057.5:c.479G>C (APOC4-APOC2)	ENSP00000468139.1:p.Ser160Thr
ENST00000590360.2:c.248G>C (APOC2)	ENSP00000466775.1:p.Ser83Thr
ENST00000591597.5:c.206G>C (APOC2)	ENSP00000476835.1:p.Ser69Thr
ENST00000592257.5:c.*42G>C (APOC2)	ENSP00000477261.1:n.*42G>C
NM_000483.4:c.248G>C (APOC2)	NP_000474.2:p.Ser83Thr
NR_037932.1:n.1455G>C (APOC4-APOC2)
NM_000483.5:c.248G>C (APOC2) MANE Select	NP_000474.2:p.Ser83Thr