Canonical Allele Identifier: CA308875880

Gene: APOC2 APOC4-APOC2

Linked Data

• dbSNP Id: rs959736411
• gnomAD v4: 19-44948832-T-C
• MyVariant Identifiers: chr19:g.45452089T>C (hg19) ; chr19:g.44948832T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44948832T>C , CM000681.2:g.44948832T>C	GRCh38
NC_000019.9:g.45452089T>C , CM000681.1:g.45452089T>C	GRCh37
NC_000019.8:g.50143929T>C	NCBI36
NG_008837.1:g.7847T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252490.7:c.187T>C (APOC2) MANE Select	ENSP00000252490.5:p.Tyr63His
ENST00000252490.5:c.187T>C (APOC4-APOC2)	ENSP00000252490.4:p.Tyr63His
ENST00000585685.5:c.*970T>C (APOC4-APOC2)	ENSP00000467185.1:n.*970T>C
ENST00000585786.1:c.187T>C (APOC2)	ENSP00000465001.1:p.Tyr63His
ENST00000589057.5:c.418T>C (APOC4-APOC2)	ENSP00000468139.1:p.Tyr140His
ENST00000590360.2:c.187T>C (APOC2)	ENSP00000466775.1:p.Tyr63His
ENST00000591597.5:c.173+14T>C (APOC2)	ENSP00000476835.1:n.173+14T>C
ENST00000592257.5:c.125T>C (APOC2)	ENSP00000477261.1:p.Ile42Thr
NM_000483.4:c.187T>C (APOC2)	NP_000474.2:p.Tyr63His
NR_037932.1:n.1394T>C (APOC4-APOC2)
NM_000483.5:c.187T>C (APOC2) MANE Select	NP_000474.2:p.Tyr63His