Canonical Allele Identifier: CA633478867
Gene: APOC2 HGNC NCBI
APOC4-APOC2 HGNC NCBI

Linked Data

dbSNP Id: rs1970354119
gnomAD v2: 19-45452261-CCCCCAGCCCGTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGT-C
gnomAD v3: 19-44949004-CCCCCAGCCCGTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGT-C
gnomAD v4: 19-44949004-CCCCCAGCCCGTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGT-C
MyVariant Identifiers: chr19:g.45452262_45452335del (hg19) chr19:g.44949005_44949078del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44949011_44949084del , CM000681.2:g.44949011_44949084del GRCh38
NC_000019.9:g.45452268_45452341del , CM000681.1:g.45452268_45452341del GRCh37
NC_000019.8:g.50144108_50144181del NCBI36
NG_008837.1:g.8026_8099del

Transcript Alleles

HGVS Amino-acid change
ENST00000252490.7:c.216-148_216-75del (APOC2) MANE Select ENSP00000252490.5:n.216-148_216-75del
ENST00000252490.5:c.216-148_216-75del (APOC4-APOC2) ENSP00000252490.4:n.216-148_216-75del
ENST00000585685.5:c.*999-148_*999-75del (APOC4-APOC2) ENSP00000467185.1:n.*999-148_*999-75del
ENST00000585786.1:c.*147_*220del (APOC2) ENSP00000465001.1:n.*147_*220del
ENST00000589057.5:c.447-148_447-75del (APOC4-APOC2) ENSP00000468139.1:n.447-148_447-75del
ENST00000590360.2:c.216-148_216-75del (APOC2) ENSP00000466775.1:n.216-148_216-75del
ENST00000591597.5:c.174-148_174-75del (APOC2) ENSP00000476835.1:n.174-148_174-75del
ENST00000592257.5:c.*10-148_*10-75del (APOC2) ENSP00000477261.1:n.*10-148_*10-75del
NM_000483.4:c.216-148_216-75del (APOC2) NP_000474.2:n.216-148_216-75del
NR_037932.1:n.1423-148_1423-75del (APOC4-APOC2)
NM_000483.5:c.216-148_216-75del (APOC2) MANE Select NP_000474.2:n.216-148_216-75del
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