Canonical Allele Identifier: CA115621

Gene: APOC2 APOC4-APOC2

Linked Data

• ClinVar Variation Id: 2581
• ClinVar RCV Id: RCV000002697 ; RCV001135899 ; RCV001551048 ; RCV003162207 ; RCV003904797
• dbSNP Id: rs120074114
• ExAC: 19:45452024 A / C
• gnomAD v2: 19-45452024-A-C
• gnomAD v3: 19-44948767-A-C
• gnomAD v4: 19-44948767-A-C
• MyVariant Identifiers: chr19:g.45452024A>C (hg19) ; chr19:g.44948767A>C (hg38)
• PubMed: PMID:1782747

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44948767A>C , CM000681.2:g.44948767A>C	GRCh38
NC_000019.9:g.45452024A>C , CM000681.1:g.45452024A>C	GRCh37
NC_000019.8:g.50143864A>C	NCBI36
NG_008837.1:g.7782A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252490.7:c.122A>C (APOC2) MANE Select	ENSP00000252490.5:p.Lys41Thr
ENST00000252490.5:c.122A>C (APOC4-APOC2)	ENSP00000252490.4:p.Lys41Thr
ENST00000585685.5:c.*905A>C (APOC4-APOC2)	ENSP00000467185.1:n.*905A>C
ENST00000585786.1:c.122A>C (APOC2)	ENSP00000465001.1:p.Lys41Thr
ENST00000589057.5:c.353A>C (APOC4-APOC2)	ENSP00000468139.1:p.Lys118Thr
ENST00000590360.2:c.122A>C (APOC2)	ENSP00000466775.1:p.Lys41Thr
ENST00000591597.5:c.122A>C (APOC2)	ENSP00000476835.1:p.Lys41Thr
ENST00000592257.5:c.60A>C (APOC2)	ENSP00000477261.1:p.Glu20Asp
NM_000483.4:c.122A>C (APOC2)	NP_000474.2:p.Lys41Thr
NR_037932.1:n.1329A>C (APOC4-APOC2)
NM_000483.5:c.122A>C (APOC2) MANE Select	NP_000474.2:p.Lys41Thr