Canonical Allele Identifier: CA10642907
Gene: APOC2 HGNC NCBI
APOC4-APOC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 329460
ClinVar RCV Id: RCV000379648 RCV001653599
dbSNP Id: rs150448996
gnomAD v2: 19-45452694-G-GT
gnomAD v3: 19-44949437-G-GT
gnomAD v4: 19-44949437-G-GT
COSMIC: COSN1216545 COSN1216546 COSN1216547
MyVariant Identifiers: chr19:g.45452694_45452695insT (hg19) chr19:g.44949437_44949438insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44949437_44949438insT , CM000681.2:g.44949437_44949438insT GRCh38
NC_000019.9:g.45452694_45452695insT , CM000681.1:g.45452694_45452695insT GRCh37
NC_000019.8:g.50144534_50144535insT NCBI36
NG_008837.1:g.8452_8453insT

Transcript Alleles

HGVS Amino-acid change
ENST00000252490.7:c.*188_*189insT (APOC2) MANE Select ENSP00000252490.5:n.*188_*189insT
ENST00000252490.5:c.*188_*189insT (APOC4-APOC2) ENSP00000252490.4:n.*188_*189insT
ENST00000585685.5:c.*1277_*1278insT (APOC4-APOC2) ENSP00000467185.1:n.*1277_*1278insT
ENST00000590360.2:c.*188_*189insT (APOC2) ENSP00000466775.1:n.*188_*189insT
NM_000483.4:c.*188_*189insT (APOC2) NP_000474.2:n.*188_*189insT
NR_037932.1:n.1701_1702insT (APOC4-APOC2)
NM_000483.5:c.*188_*189insT (APOC2) MANE Select NP_000474.2:n.*188_*189insT
Search 100 bp 5'
Search 100 bp 3'