Canonical Allele Identifier: CA633478879

Gene: APOC2 APOC4-APOC2

Linked Data

• dbSNP Id: rs1568634973
• gnomAD v2: 19-45452279-TCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGACCC-T
• gnomAD v3: 19-44949022-TCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGACCC-T
• gnomAD v4: 19-44949022-TCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGACCC-T
• MyVariant Identifiers: chr19:g.45452280_45452345del (hg19) ; chr19:g.44949023_44949088del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44949023_44949088del , CM000681.2:g.44949023_44949088del	GRCh38
NC_000019.9:g.45452280_45452345del , CM000681.1:g.45452280_45452345del	GRCh37
NC_000019.8:g.50144120_50144185del	NCBI36
NG_008837.1:g.8038_8103del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252490.7:c.216-136_216-71del (APOC2) MANE Select	ENSP00000252490.5:n.216-136_216-71del
ENST00000252490.5:c.216-136_216-71del (APOC4-APOC2)	ENSP00000252490.4:n.216-136_216-71del
ENST00000585685.5:c.*999-136_*999-71del (APOC4-APOC2)	ENSP00000467185.1:n.*999-136_*999-71del
ENST00000585786.1:c.*159_*224del (APOC2)	ENSP00000465001.1:n.*159_*224del
ENST00000589057.5:c.447-136_447-71del (APOC4-APOC2)	ENSP00000468139.1:n.447-136_447-71del
ENST00000590360.2:c.216-136_216-71del (APOC2)	ENSP00000466775.1:n.216-136_216-71del
ENST00000591597.5:c.174-136_174-71del (APOC2)	ENSP00000476835.1:n.174-136_174-71del
ENST00000592257.5:c.*10-136_*10-71del (APOC2)	ENSP00000477261.1:n.*10-136_*10-71del
NM_000483.4:c.216-136_216-71del (APOC2)	NP_000474.2:n.216-136_216-71del
NR_037932.1:n.1423-136_1423-71del (APOC4-APOC2)
NM_000483.5:c.216-136_216-71del (APOC2) MANE Select	NP_000474.2:n.216-136_216-71del