Canonical Allele Identifier: CA406292680

Gene: APOC2 APOC4-APOC2

Linked Data

• gnomAD v4: 19-44948773-C-G
• COSMIC: COSM712388
• MyVariant Identifiers: chr19:g.45452030C>G (hg19) ; chr19:g.44948773C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44948773C>G , CM000681.2:g.44948773C>G	GRCh38
NC_000019.9:g.45452030C>G , CM000681.1:g.45452030C>G	GRCh37
NC_000019.8:g.50143870C>G	NCBI36
NG_008837.1:g.7788C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252490.7:c.128C>G (APOC2) MANE Select	ENSP00000252490.5:p.Ser43Cys
ENST00000252490.5:c.128C>G (APOC4-APOC2)	ENSP00000252490.4:p.Ser43Cys
ENST00000585685.5:c.*911C>G (APOC4-APOC2)	ENSP00000467185.1:n.*911C>G
ENST00000585786.1:c.128C>G (APOC2)	ENSP00000465001.1:p.Ser43Cys
ENST00000589057.5:c.359C>G (APOC4-APOC2)	ENSP00000468139.1:p.Ser120Cys
ENST00000590360.2:c.128C>G (APOC2)	ENSP00000466775.1:p.Ser43Cys
ENST00000591597.5:c.128C>G (APOC2)	ENSP00000476835.1:p.Ser43Cys
ENST00000592257.5:c.66C>G (APOC2)	ENSP00000477261.1:p.Ile22Met
NM_000483.4:c.128C>G (APOC2)	NP_000474.2:p.Ser43Cys
NR_037932.1:n.1335C>G (APOC4-APOC2)
NM_000483.5:c.128C>G (APOC2) MANE Select	NP_000474.2:p.Ser43Cys