Canonical Allele Identifier: CA996271471

Gene: APOC2 APOC4-APOC2

Linked Data

• dbSNP Id: rs1970354688
• gnomAD v3: 19-44949014-GTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGACCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCC-G
• gnomAD v4: 19-44949014-GTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGACCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44949024_44949134del , CM000681.2:g.44949024_44949134del	GRCh38
NC_000019.9:g.45452281_45452391del , CM000681.1:g.45452281_45452391del	GRCh37
NC_000019.8:g.50144121_50144231del	NCBI36
NG_008837.1:g.8039_8149del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252490.7:c.216-135_216-25del (APOC2) MANE Select	ENSP00000252490.5:n.216-135_216-25del
ENST00000252490.5:c.216-135_216-25del (APOC4-APOC2)	ENSP00000252490.4:n.216-135_216-25del
ENST00000585685.5:c.*999-135_*999-25del (APOC4-APOC2)	ENSP00000467185.1:n.*999-135_*999-25del
ENST00000585786.1:c.*160_*270del (APOC2)	ENSP00000465001.1:n.*160_*270del
ENST00000589057.5:c.447-135_447-25del (APOC4-APOC2)	ENSP00000468139.1:n.447-135_447-25del
ENST00000590360.2:c.216-135_216-25del (APOC2)	ENSP00000466775.1:n.216-135_216-25del
ENST00000591597.5:c.174-135_174-25del (APOC2)	ENSP00000476835.1:n.174-135_174-25del
ENST00000592257.5:c.*10-135_*10-25del (APOC2)	ENSP00000477261.1:n.*10-135_*10-25del
NM_000483.4:c.216-135_216-25del (APOC2)	NP_000474.2:n.216-135_216-25del
NR_037932.1:n.1423-135_1423-25del (APOC4-APOC2)
NM_000483.5:c.216-135_216-25del (APOC2) MANE Select	NP_000474.2:n.216-135_216-25del