Canonical Allele Identifier: CA633478862

Gene: APOC2 APOC4-APOC2

Linked Data

• dbSNP Id: rs1451390456
• gnomAD v2: 19-45452237-CTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCG-C
• gnomAD v3: 19-44948980-CTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCG-C
• gnomAD v4: 19-44948980-CTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCG-C
• MyVariant Identifiers: chr19:g.45452238_45452271del (hg19) ; chr19:g.44948981_44949014del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44948984_44949017del , CM000681.2:g.44948984_44949017del	GRCh38
NC_000019.9:g.45452241_45452274del , CM000681.1:g.45452241_45452274del	GRCh37
NC_000019.8:g.50144081_50144114del	NCBI36
NG_008837.1:g.7999_8032del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252490.7:c.215+124_216-142del (APOC2) MANE Select	ENSP00000252490.5:n.215+124_216-142del
ENST00000252490.5:c.215+124_216-142del (APOC4-APOC2)	ENSP00000252490.4:n.215+124_216-142del
ENST00000585685.5:c.*998+124_*999-142del (APOC4-APOC2)	ENSP00000467185.1:n.*998+124_*999-142del
ENST00000585786.1:c.*120_*153del (APOC2)	ENSP00000465001.1:n.*120_*153del
ENST00000589057.5:c.446+124_447-142del (APOC4-APOC2)	ENSP00000468139.1:n.446+124_447-142del
ENST00000590360.2:c.215+124_216-142del (APOC2)	ENSP00000466775.1:n.215+124_216-142del
ENST00000591597.5:c.173+166_174-142del (APOC2)	ENSP00000476835.1:n.173+166_174-142del
ENST00000592257.5:c.*9+124_*10-142del (APOC2)	ENSP00000477261.1:n.*9+124_*10-142del
NM_000483.4:c.215+124_216-142del (APOC2)	NP_000474.2:n.215+124_216-142del
NR_037932.1:n.1422+124_1423-142del (APOC4-APOC2)
NM_000483.5:c.215+124_216-142del (APOC2) MANE Select	NP_000474.2:n.215+124_216-142del