Canonical Allele Identifier: CA2585725044

Gene: APOC2 APOC4-APOC2

Linked Data

• gnomAD v4: 19-44949174-AAGCACAGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44949178_44949185del , CM000681.2:g.44949178_44949185del	GRCh38
NC_000019.9:g.45452435_45452442del , CM000681.1:g.45452435_45452442del	GRCh37
NC_000019.8:g.50144275_50144282del	NCBI36
NG_008837.1:g.8193_8200del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252490.7:c.235_242del (APOC2) MANE Select	ENSP00000252490.5:p.Thr79HisfsTer10
ENST00000252490.5:c.235_242del (APOC4-APOC2)	ENSP00000252490.4:p.Thr79HisfsTer10
ENST00000585685.5:c.*1018_*1025del (APOC4-APOC2)	ENSP00000467185.1:n.*1018_*1025del
ENST00000585786.1:c.*314_*321del (APOC2)	ENSP00000465001.1:n.*314_*321del
ENST00000589057.5:c.466_473del (APOC4-APOC2)	ENSP00000468139.1:p.Thr156HisfsTer10
ENST00000590360.2:c.235_242del (APOC2)	ENSP00000466775.1:p.Thr79HisfsTer10
ENST00000591597.5:c.193_200del (APOC2)	ENSP00000476835.1:p.Thr65HisfsTer10
ENST00000592257.5:c.*29_*36del (APOC2)	ENSP00000477261.1:n.*29_*36del
NM_000483.4:c.235_242del (APOC2)	NP_000474.2:p.Thr79HisfsTer10
NR_037932.1:n.1442_1449del (APOC4-APOC2)
NM_000483.5:c.235_242del (APOC2) MANE Select	NP_000474.2:p.Thr79HisfsTer10