Canonical Allele Identifier: CA996271316

Gene: APOC2 APOC4-APOC2

Linked Data

• gnomAD v3: 19-44948931-GCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCGTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGACCCTCCTCCCTCAGACCCAGGAGTCCAGGC-G
• gnomAD v4: 19-44948931-GCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCGTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGACCCTCCTCCCTCAGACCCAGGAGTCCAGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44948951_44949134del , CM000681.2:g.44948951_44949134del	GRCh38
NC_000019.9:g.45452208_45452391del , CM000681.1:g.45452208_45452391del	GRCh37
NC_000019.8:g.50144048_50144231del	NCBI36
NG_008837.1:g.7966_8149del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252490.7:c.215+91_216-25del (APOC2) MANE Select	ENSP00000252490.5:n.215+91_216-25del
ENST00000252490.5:c.215+91_216-25del (APOC4-APOC2)	ENSP00000252490.4:n.215+91_216-25del
ENST00000585685.5:c.*998+91_*999-25del (APOC4-APOC2)	ENSP00000467185.1:n.*998+91_*999-25del
ENST00000585786.1:c.*87_*270del (APOC2)	ENSP00000465001.1:n.*87_*270del
ENST00000589057.5:c.446+91_447-25del (APOC4-APOC2)	ENSP00000468139.1:n.446+91_447-25del
ENST00000590360.2:c.215+91_216-25del (APOC2)	ENSP00000466775.1:n.215+91_216-25del
ENST00000591597.5:c.173+133_174-25del (APOC2)	ENSP00000476835.1:n.173+133_174-25del
ENST00000592257.5:c.*9+91_*10-25del (APOC2)	ENSP00000477261.1:n.*9+91_*10-25del
NM_000483.4:c.215+91_216-25del (APOC2)	NP_000474.2:n.215+91_216-25del
NR_037932.1:n.1422+91_1423-25del (APOC4-APOC2)
NM_000483.5:c.215+91_216-25del (APOC2) MANE Select	NP_000474.2:n.215+91_216-25del