Canonical Allele Identifier: CA9506573

Gene: APOC2 APOC4-APOC2

Linked Data

• dbSNP Id: rs751752773
• ExAC: 19:45451759 T / G
• gnomAD v2: 19-45451759-T-G
• gnomAD v3: 19-44948502-T-G
• gnomAD v4: 19-44948502-T-G
• MyVariant Identifiers: chr19:g.45451759T>G (hg19) ; chr19:g.44948502T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44948502T>G , CM000681.2:g.44948502T>G	GRCh38
NC_000019.9:g.45451759T>G , CM000681.1:g.45451759T>G	GRCh37
NC_000019.8:g.50143599T>G	NCBI36
NG_008837.1:g.7517T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252490.7:c.24T>G (APOC2) MANE Select	ENSP00000252490.5:p.Ala8=
ENST00000252490.5:c.24T>G (APOC4-APOC2)	ENSP00000252490.4:p.Ala8=
ENST00000585685.5:c.*807T>G (APOC4-APOC2)	ENSP00000467185.1:n.*807T>G
ENST00000585786.1:c.24T>G (APOC2)	ENSP00000465001.1:p.Ala8=
ENST00000589057.5:c.255T>G (APOC4-APOC2)	ENSP00000468139.1:p.Ala85=
ENST00000590360.2:c.24T>G (APOC2)	ENSP00000466775.1:p.Ala8=
ENST00000591597.5:c.24T>G (APOC2)	ENSP00000476835.1:p.Ala8=
ENST00000592257.5:c.24T>G (APOC2)	ENSP00000477261.1:p.Ala8=
NM_000483.4:c.24T>G (APOC2)	NP_000474.2:p.Ala8=
NR_037932.1:n.1231T>G (APOC4-APOC2)
NM_000483.5:c.24T>G (APOC2) MANE Select	NP_000474.2:p.Ala8=