Canonical Allele Identifier: CA308875912

Gene: APOC2 APOC4-APOC2

Linked Data

• ClinVar Variation Id: 1620032
• ClinVar RCV Id: RCV002089233
• dbSNP Id: rs1033948087
• gnomAD v3: 19-44948870-G-A
• gnomAD v4: 19-44948870-G-A
• MyVariant Identifiers: chr19:g.45452127G>A (hg19) ; chr19:g.44948870G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44948870G>A , CM000681.2:g.44948870G>A	GRCh38
NC_000019.9:g.45452127G>A , CM000681.1:g.45452127G>A	GRCh37
NC_000019.8:g.50143967G>A	NCBI36
NG_008837.1:g.7885G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252490.7:c.215+10G>A (APOC2) MANE Select	ENSP00000252490.5:n.215+10G>A
ENST00000252490.5:c.215+10G>A (APOC4-APOC2)	ENSP00000252490.4:n.215+10G>A
ENST00000585685.5:c.*998+10G>A (APOC4-APOC2)	ENSP00000467185.1:n.*998+10G>A
ENST00000585786.1:c.*6G>A (APOC2)	ENSP00000465001.1:n.*6G>A
ENST00000589057.5:c.446+10G>A (APOC4-APOC2)	ENSP00000468139.1:n.446+10G>A
ENST00000590360.2:c.215+10G>A (APOC2)	ENSP00000466775.1:n.215+10G>A
ENST00000591597.5:c.173+52G>A (APOC2)	ENSP00000476835.1:n.173+52G>A
ENST00000592257.5:c.*9+10G>A (APOC2)	ENSP00000477261.1:n.*9+10G>A
NM_000483.4:c.215+10G>A (APOC2)	NP_000474.2:n.215+10G>A
NR_037932.1:n.1422+10G>A (APOC4-APOC2)
NM_000483.5:c.215+10G>A (APOC2) MANE Select	NP_000474.2:n.215+10G>A