Canonical Allele Identifier: CA996271303

Gene: APOC2 APOC4-APOC2

Linked Data

• gnomAD v3: 19-44948929-AGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAG-A
• gnomAD v4: 19-44948929-AGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44948931_44949003del , CM000681.2:g.44948931_44949003del	GRCh38
NC_000019.9:g.45452188_45452260del , CM000681.1:g.45452188_45452260del	GRCh37
NC_000019.8:g.50144028_50144100del	NCBI36
NG_008837.1:g.7946_8018del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252490.7:c.215+71_215+143del (APOC2) MANE Select	ENSP00000252490.5:n.215+71_215+143del
ENST00000252490.5:c.215+71_215+143del (APOC4-APOC2)	ENSP00000252490.4:n.215+71_215+143del
ENST00000585685.5:c.*998+71_*998+143del (APOC4-APOC2)	ENSP00000467185.1:n.*998+71_*998+143del
ENST00000585786.1:c.*67_*139del (APOC2)	ENSP00000465001.1:n.*67_*139del
ENST00000589057.5:c.446+71_446+143del (APOC4-APOC2)	ENSP00000468139.1:n.446+71_446+143del
ENST00000590360.2:c.215+71_215+143del (APOC2)	ENSP00000466775.1:n.215+71_215+143del
ENST00000591597.5:c.173+113_174-156del (APOC2)	ENSP00000476835.1:n.173+113_174-156del
ENST00000592257.5:c.*9+71_*9+143del (APOC2)	ENSP00000477261.1:n.*9+71_*9+143del
NM_000483.4:c.215+71_215+143del (APOC2)	NP_000474.2:n.215+71_215+143del
NR_037932.1:n.1422+71_1422+143del (APOC4-APOC2)
NM_000483.5:c.215+71_215+143del (APOC2) MANE Select	NP_000474.2:n.215+71_215+143del