Canonical Allele Identifier: CA9506571

Gene: APOC2 APOC4-APOC2

Linked Data

• ClinVar Variation Id: 2992672
• ClinVar RCV Id: RCV003857783
• dbSNP Id: rs755352904
• ExAC: 19:45451757 GCT / G
• gnomAD v2: 19-45451757-GCT-G
• gnomAD v4: 19-44948500-GCT-G
• MyVariant Identifiers: chr19:g.45451758_45451759del (hg19) ; chr19:g.44948501_44948502del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44948503_44948504del , CM000681.2:g.44948503_44948504del	GRCh38
NC_000019.9:g.45451760_45451761del , CM000681.1:g.45451760_45451761del	GRCh37
NC_000019.8:g.50143600_50143601del	NCBI36
NG_008837.1:g.7518_7519del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252490.7:c.25_26del (APOC2) MANE Select	ENSP00000252490.5:p.Leu9ValfsTer10
ENST00000252490.5:c.25_26del (APOC4-APOC2)	ENSP00000252490.4:p.Leu9ValfsTer10
ENST00000585685.5:c.*808_*809del (APOC4-APOC2)	ENSP00000467185.1:n.*808_*809del
ENST00000585786.1:c.25_26del (APOC2)	ENSP00000465001.1:p.Leu9ValfsTer10
ENST00000589057.5:c.256_257del (APOC4-APOC2)	ENSP00000468139.1:p.Leu86ValfsTer10
ENST00000590360.2:c.25_26del (APOC2)	ENSP00000466775.1:p.Leu9ValfsTer10
ENST00000591597.5:c.25_26del (APOC2)	ENSP00000476835.1:p.Leu9ValfsTer10
ENST00000592257.5:c.25_26del (APOC2)	ENSP00000477261.1:p.Leu9ValfsTer11
NM_000483.4:c.25_26del (APOC2)	NP_000474.2:p.Leu9ValfsTer10
NR_037932.1:n.1232_1233del (APOC4-APOC2)
NM_000483.5:c.25_26del (APOC2) MANE Select	NP_000474.2:p.Leu9ValfsTer10