Canonical Allele Identifier: CA882679863

Gene: APOC2 APOC4-APOC2

Linked Data

• dbSNP Id: rs1430203751
• gnomAD v3: 19-44948771-ATC-A
• gnomAD v4: 19-44948771-ATC-A
• MyVariant Identifiers: chr19:g.45452029_45452030del (hg19) ; chr19:g.44948772_44948773del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44948778_44948779del , CM000681.2:g.44948778_44948779del	GRCh38
NC_000019.9:g.45452035_45452036del , CM000681.1:g.45452035_45452036del	GRCh37
NC_000019.8:g.50143875_50143876del	NCBI36
NG_008837.1:g.7793_7794del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252490.7:c.133_134del (APOC2) MANE Select	ENSP00000252490.5:p.Ser45GlnfsTer24
ENST00000252490.5:c.133_134del (APOC4-APOC2)	ENSP00000252490.4:p.Ser45GlnfsTer24
ENST00000585685.5:c.*916_*917del (APOC4-APOC2)	ENSP00000467185.1:n.*916_*917del
ENST00000585786.1:c.133_134del (APOC2)	ENSP00000465001.1:p.Ser45GlnfsTer24
ENST00000589057.5:c.364_365del (APOC4-APOC2)	ENSP00000468139.1:p.Ser122GlnfsTer24
ENST00000590360.2:c.133_134del (APOC2)	ENSP00000466775.1:p.Ser45GlnfsTer24
ENST00000591597.5:c.133_134del (APOC2)	ENSP00000476835.1:p.Ser45GlnfsTer?
ENST00000592257.5:c.71_72del (APOC2)	ENSP00000477261.1:p.Leu24ProfsTer23
NM_000483.4:c.133_134del (APOC2)	NP_000474.2:p.Ser45GlnfsTer24
NR_037932.1:n.1340_1341del (APOC4-APOC2)
NM_000483.5:c.133_134del (APOC2) MANE Select	NP_000474.2:p.Ser45GlnfsTer24