Canonical Allele Identifier: CA633478885

Gene: APOC2 APOC4-APOC2

Linked Data

• dbSNP Id: rs1489127421
• gnomAD v2: 19-45452305-CCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGA-C
• gnomAD v3: 19-44949048-CCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGA-C
• gnomAD v4: 19-44949048-CCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGA-C
• MyVariant Identifiers: chr19:g.45452306_45452342del (hg19) ; chr19:g.44949049_44949085del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44949078_44949114del , CM000681.2:g.44949078_44949114del	GRCh38
NC_000019.9:g.45452335_45452371del , CM000681.1:g.45452335_45452371del	GRCh37
NC_000019.8:g.50144175_50144211del	NCBI36
NG_008837.1:g.8093_8129del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252490.7:c.216-81_216-45del (APOC2) MANE Select	ENSP00000252490.5:n.216-81_216-45del
ENST00000252490.5:c.216-81_216-45del (APOC4-APOC2)	ENSP00000252490.4:n.216-81_216-45del
ENST00000585685.5:c.*999-81_*999-45del (APOC4-APOC2)	ENSP00000467185.1:n.*999-81_*999-45del
ENST00000585786.1:c.*214_*250del (APOC2)	ENSP00000465001.1:n.*214_*250del
ENST00000589057.5:c.447-81_447-45del (APOC4-APOC2)	ENSP00000468139.1:n.447-81_447-45del
ENST00000590360.2:c.216-81_216-45del (APOC2)	ENSP00000466775.1:n.216-81_216-45del
ENST00000591597.5:c.174-81_174-45del (APOC2)	ENSP00000476835.1:n.174-81_174-45del
ENST00000592257.5:c.*10-81_*10-45del (APOC2)	ENSP00000477261.1:n.*10-81_*10-45del
NM_000483.4:c.216-81_216-45del (APOC2)	NP_000474.2:n.216-81_216-45del
NR_037932.1:n.1423-81_1423-45del (APOC4-APOC2)
NM_000483.5:c.216-81_216-45del (APOC2) MANE Select	NP_000474.2:n.216-81_216-45del