Canonical Allele Identifier: CA406295197

Gene: APOC2 APOC4-APOC2

Linked Data

• ClinVar Variation Id: 1928114
• ClinVar RCV Id: RCV002614367
• dbSNP Id: rs746338249
• gnomAD v2: 19-45452438-G-A
• gnomAD v4: 19-44949181-G-A
• MyVariant Identifiers: chr19:g.45452438G>A (hg19) ; chr19:g.44949181G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44949181G>A , CM000681.2:g.44949181G>A	GRCh38
NC_000019.9:g.45452438G>A , CM000681.1:g.45452438G>A	GRCh37
NC_000019.8:g.50144278G>A	NCBI36
NG_008837.1:g.8196G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252490.7:c.238G>A (APOC2) MANE Select	ENSP00000252490.5:p.Ala80Thr
ENST00000252490.5:c.238G>A (APOC4-APOC2)	ENSP00000252490.4:p.Ala80Thr
ENST00000585685.5:c.*1021G>A (APOC4-APOC2)	ENSP00000467185.1:n.*1021G>A
ENST00000585786.1:c.*317G>A (APOC2)	ENSP00000465001.1:n.*317G>A
ENST00000589057.5:c.469G>A (APOC4-APOC2)	ENSP00000468139.1:p.Ala157Thr
ENST00000590360.2:c.238G>A (APOC2)	ENSP00000466775.1:p.Ala80Thr
ENST00000591597.5:c.196G>A (APOC2)	ENSP00000476835.1:p.Ala66Thr
ENST00000592257.5:c.*32G>A (APOC2)	ENSP00000477261.1:n.*32G>A
NM_000483.4:c.238G>A (APOC2)	NP_000474.2:p.Ala80Thr
NR_037932.1:n.1445G>A (APOC4-APOC2)
NM_000483.5:c.238G>A (APOC2) MANE Select	NP_000474.2:p.Ala80Thr