Canonical Allele Identifier: CA996271674

Gene: APOC2 APOC4-APOC2

Linked Data

• gnomAD v3: 19-44949100-ACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCTAACCATCTGTGCTTTCTC-A
• gnomAD v4: 19-44949100-ACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCTAACCATCTGTGCTTTCTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44949107_44949159del , CM000681.2:g.44949107_44949159del	GRCh38
NC_000019.9:g.45452364_45452416del , CM000681.1:g.45452364_45452416del	GRCh37
NC_000019.8:g.50144204_50144256del	NCBI36
NG_008837.1:g.8122_8174del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252490.7:c.216-52_216del (APOC2)
ENST00000252490.5:c.216-52_216del (APOC4-APOC2)
ENST00000585685.5:c.*999-52_*999del (APOC4-APOC2)
ENST00000585786.1:c.*243_*295del (APOC2)	ENSP00000465001.1:n.*243_*295del
ENST00000589057.5:c.447-52_447del (APOC4-APOC2)
ENST00000590360.2:c.216-52_216del (APOC2)
ENST00000591597.5:c.174-52_174del (APOC2)
ENST00000592257.5:c.*10-52_*10del (APOC2)
NM_000483.4:c.216-52_216del (APOC2)
NR_037932.1:n.1423-52_1423del (APOC4-APOC2)
NM_000483.5:c.216-52_216del (APOC2)