Canonical Allele Identifier: CA633478868

Gene: APOC2 APOC4-APOC2

Linked Data

• dbSNP Id: rs1568634953
• gnomAD v2: 19-45452268-CCCGTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGA-C
• gnomAD v3: 19-44949011-CCCGTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGA-C
• gnomAD v4: 19-44949011-CCCGTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGA-C
• MyVariant Identifiers: chr19:g.45452269_45452342del (hg19) ; chr19:g.44949012_44949085del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44949014_44949087del , CM000681.2:g.44949014_44949087del	GRCh38
NC_000019.9:g.45452271_45452344del , CM000681.1:g.45452271_45452344del	GRCh37
NC_000019.8:g.50144111_50144184del	NCBI36
NG_008837.1:g.8029_8102del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252490.7:c.216-145_216-72del (APOC2) MANE Select	ENSP00000252490.5:n.216-145_216-72del
ENST00000252490.5:c.216-145_216-72del (APOC4-APOC2)	ENSP00000252490.4:n.216-145_216-72del
ENST00000585685.5:c.*999-145_*999-72del (APOC4-APOC2)	ENSP00000467185.1:n.*999-145_*999-72del
ENST00000585786.1:c.*150_*223del (APOC2)	ENSP00000465001.1:n.*150_*223del
ENST00000589057.5:c.447-145_447-72del (APOC4-APOC2)	ENSP00000468139.1:n.447-145_447-72del
ENST00000590360.2:c.216-145_216-72del (APOC2)	ENSP00000466775.1:n.216-145_216-72del
ENST00000591597.5:c.174-145_174-72del (APOC2)	ENSP00000476835.1:n.174-145_174-72del
ENST00000592257.5:c.*10-145_*10-72del (APOC2)	ENSP00000477261.1:n.*10-145_*10-72del
NM_000483.4:c.216-145_216-72del (APOC2)	NP_000474.2:n.216-145_216-72del
NR_037932.1:n.1423-145_1423-72del (APOC4-APOC2)
NM_000483.5:c.216-145_216-72del (APOC2) MANE Select	NP_000474.2:n.216-145_216-72del