Canonical Allele Identifier: CA9506649

Gene: APOC2 APOC4-APOC2

Linked Data

• ClinVar Variation Id: 1685529
• ClinVar RCV Id: RCV002249256
• dbSNP Id: rs199563828
• ExAC: 19:45452474 C / T
• gnomAD v2: 19-45452474-C-T
• gnomAD v3: 19-44949217-C-T
• gnomAD v4: 19-44949217-C-T
• MyVariant Identifiers: chr19:g.45452474C>T (hg19) ; chr19:g.44949217C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44949217C>T , CM000681.2:g.44949217C>T	GRCh38
NC_000019.9:g.45452474C>T , CM000681.1:g.45452474C>T	GRCh37
NC_000019.8:g.50144314C>T	NCBI36
NG_008837.1:g.8232C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252490.7:c.274C>T (APOC2) MANE Select	ENSP00000252490.5:p.Gln92Ter
ENST00000252490.5:c.274C>T (APOC4-APOC2)	ENSP00000252490.4:p.Gln92Ter
ENST00000585685.5:c.*1057C>T (APOC4-APOC2)	ENSP00000467185.1:n.*1057C>T
ENST00000585786.1:c.*353C>T (APOC2)	ENSP00000465001.1:n.*353C>T
ENST00000589057.5:c.505C>T (APOC4-APOC2)	ENSP00000468139.1:p.Gln169Ter
ENST00000590360.2:c.274C>T (APOC2)	ENSP00000466775.1:p.Gln92Ter
ENST00000591597.5:c.232C>T (APOC2)	ENSP00000476835.1:p.Gln78Ter
ENST00000592257.5:c.*68C>T (APOC2)	ENSP00000477261.1:n.*68C>T
NM_000483.4:c.274C>T (APOC2)	NP_000474.2:p.Gln92Ter
NR_037932.1:n.1481C>T (APOC4-APOC2)
NM_000483.5:c.274C>T (APOC2) MANE Select	NP_000474.2:p.Gln92Ter