Canonical Allele Identifier: CA633478861
Gene: APOC2 HGNC NCBI
APOC4-APOC2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.44948979del
GRCh37 chr19:g.45452236del
gnomAD v2:
19:45452235 TC / T
gnomAD v3:
19:44948978 TC / T
gnomAD v4:
chr19-44948978-TC-T
Joint Max Group AF 0.00033176 (EAS)
Genomes Max Group AF 0.00108904 (EAS)
Exomes Max Group AF 0.00021223 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44948980del , CM000681.2:g.44948980del GRCh38
NC_000019.9:g.45452237del , CM000681.1:g.45452237del GRCh37
NC_000019.8:g.50144077del NCBI36
NG_008837.1:g.7995del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252490.7:c.215+120del (APOC2) MANE Select ENSP00000252490.5:n.215+120del
ENST00000252490.5:c.215+120del (APOC4-APOC2) ENSP00000252490.4:n.215+120del
ENST00000585685.5:c.*998+120del (APOC4-APOC2) ENSP00000467185.1:n.*998+120del
ENST00000585786.1:c.*116del (APOC2) ENSP00000465001.1:n.*116del
ENST00000589057.5:c.446+120del (APOC4-APOC2) ENSP00000468139.1:n.446+120del
ENST00000590360.2:c.215+120del (APOC2) ENSP00000466775.1:n.215+120del
ENST00000591597.5:c.173+162del (APOC2) ENSP00000476835.1:n.173+162del
ENST00000592257.5:c.*9+120del (APOC2) ENSP00000477261.1:n.*9+120del
NM_000483.4:c.215+120del (APOC2) NP_000474.2:n.215+120del
NR_037932.1:n.1422+120del (APOC4-APOC2)
NM_000483.5:c.215+120del (APOC2) MANE Select NP_000474.2:n.215+120del
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