Canonical Allele Identifier: CA633478876
Gene: APOC2 HGNC NCBI
APOC4-APOC2 HGNC NCBI

Linked Data

dbSNP Id: rs1491144990
gnomAD v2: 19-45452275-TCC-T
gnomAD v3: 19-44949018-TCC-T
gnomAD v4: 19-44949018-TCC-T
MyVariant Identifiers: chr19:g.45452276_45452277del (hg19) chr19:g.44949019_44949020del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44949020_44949021del , CM000681.2:g.44949020_44949021del GRCh38
NC_000019.9:g.45452277_45452278del , CM000681.1:g.45452277_45452278del GRCh37
NC_000019.8:g.50144117_50144118del NCBI36
NG_008837.1:g.8035_8036del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252490.7:c.216-139_216-138del (APOC2) MANE Select ENSP00000252490.5:n.216-139_216-138del
ENST00000252490.5:c.216-139_216-138del (APOC4-APOC2) ENSP00000252490.4:n.216-139_216-138del
ENST00000585685.5:c.*999-139_*999-138del (APOC4-APOC2) ENSP00000467185.1:n.*999-139_*999-138del
ENST00000585786.1:c.*156_*157del (APOC2) ENSP00000465001.1:n.*156_*157del
ENST00000589057.5:c.447-139_447-138del (APOC4-APOC2) ENSP00000468139.1:n.447-139_447-138del
ENST00000590360.2:c.216-139_216-138del (APOC2) ENSP00000466775.1:n.216-139_216-138del
ENST00000591597.5:c.174-139_174-138del (APOC2) ENSP00000476835.1:n.174-139_174-138del
ENST00000592257.5:c.*10-139_*10-138del (APOC2) ENSP00000477261.1:n.*10-139_*10-138del
NM_000483.4:c.216-139_216-138del (APOC2) NP_000474.2:n.216-139_216-138del
NR_037932.1:n.1423-139_1423-138del (APOC4-APOC2)
NM_000483.5:c.216-139_216-138del (APOC2) MANE Select NP_000474.2:n.216-139_216-138del
Search 100 bp 5'
Search 100 bp 3'