Canonical Allele Identifier: CA406294878

Gene: APOC2 APOC4-APOC2

Linked Data

• ClinVar Variation Id: 2736904
• ClinVar RCV Id: RCV003560122
• MyVariant Identifiers: chr19:g.45452117G>C (hg19) ; chr19:g.44948860G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44948860G>C , CM000681.2:g.44948860G>C	GRCh38
NC_000019.9:g.45452117G>C , CM000681.1:g.45452117G>C	GRCh37
NC_000019.8:g.50143957G>C	NCBI36
NG_008837.1:g.7875G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252490.7:c.215G>C (APOC2) MANE Select	ENSP00000252490.5:p.Arg72Thr
ENST00000252490.5:c.215G>C (APOC4-APOC2)	ENSP00000252490.4:p.Arg72Thr
ENST00000585685.5:c.*998G>C (APOC4-APOC2)	ENSP00000467185.1:n.*998G>C
ENST00000585786.1:c.215G>C (APOC2)	ENSP00000465001.1:p.Arg72Thr
ENST00000589057.5:c.446G>C (APOC4-APOC2)	ENSP00000468139.1:p.Arg149Thr
ENST00000590360.2:c.215G>C (APOC2)	ENSP00000466775.1:p.Arg72Thr
ENST00000591597.5:c.173+42G>C (APOC2)	ENSP00000476835.1:n.173+42G>C
ENST00000592257.5:c.*9G>C (APOC2)	ENSP00000477261.1:n.*9G>C
NM_000483.4:c.215G>C (APOC2)	NP_000474.2:p.Arg72Thr
NR_037932.1:n.1422G>C (APOC4-APOC2)
NM_000483.5:c.215G>C (APOC2) MANE Select	NP_000474.2:p.Arg72Thr