Canonical Allele Identifier: CA633478853

Gene: APOC2 APOC4-APOC2

Linked Data

• dbSNP Id: rs1970353067
• gnomAD v2: 19-45452195-CCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCGTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGA-C
• gnomAD v3: 19-44948938-CCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCGTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGA-C
• gnomAD v4: 19-44948938-CCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCGTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGA-C
• MyVariant Identifiers: chr19:g.45452196_45452342del (hg19) ; chr19:g.44948939_44949085del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44948970_44949116del , CM000681.2:g.44948970_44949116del	GRCh38
NC_000019.9:g.45452227_45452373del , CM000681.1:g.45452227_45452373del	GRCh37
NC_000019.8:g.50144067_50144213del	NCBI36
NG_008837.1:g.7985_8131del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252490.7:c.215+110_216-43del (APOC2) MANE Select	ENSP00000252490.5:n.215+110_216-43del
ENST00000252490.5:c.215+110_216-43del (APOC4-APOC2)	ENSP00000252490.4:n.215+110_216-43del
ENST00000585685.5:c.*998+110_*999-43del (APOC4-APOC2)	ENSP00000467185.1:n.*998+110_*999-43del
ENST00000585786.1:c.*106_*252del (APOC2)	ENSP00000465001.1:n.*106_*252del
ENST00000589057.5:c.446+110_447-43del (APOC4-APOC2)	ENSP00000468139.1:n.446+110_447-43del
ENST00000590360.2:c.215+110_216-43del (APOC2)	ENSP00000466775.1:n.215+110_216-43del
ENST00000591597.5:c.173+152_174-43del (APOC2)	ENSP00000476835.1:n.173+152_174-43del
ENST00000592257.5:c.*9+110_*10-43del (APOC2)	ENSP00000477261.1:n.*9+110_*10-43del
NM_000483.4:c.215+110_216-43del (APOC2)	NP_000474.2:n.215+110_216-43del
NR_037932.1:n.1422+110_1423-43del (APOC4-APOC2)
NM_000483.5:c.215+110_216-43del (APOC2) MANE Select	NP_000474.2:n.215+110_216-43del