Canonical Allele Identifier: CA9506608

Gene: APOC2 APOC4-APOC2

Linked Data

• dbSNP Id: rs759904322
• ExAC: 19:45452050 T / A
• gnomAD v2: 19-45452050-T-A
• gnomAD v4: 19-44948793-T-A
• MyVariant Identifiers: chr19:g.45452050T>A (hg19) ; chr19:g.44948793T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44948793T>A , CM000681.2:g.44948793T>A	GRCh38
NC_000019.9:g.45452050T>A , CM000681.1:g.45452050T>A	GRCh37
NC_000019.8:g.50143890T>A	NCBI36
NG_008837.1:g.7808T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252490.7:c.148T>A (APOC2) MANE Select	ENSP00000252490.5:p.Ser50Thr
ENST00000252490.5:c.148T>A (APOC4-APOC2)	ENSP00000252490.4:p.Ser50Thr
ENST00000585685.5:c.*931T>A (APOC4-APOC2)	ENSP00000467185.1:n.*931T>A
ENST00000585786.1:c.148T>A (APOC2)	ENSP00000465001.1:p.Ser50Thr
ENST00000589057.5:c.379T>A (APOC4-APOC2)	ENSP00000468139.1:p.Ser127Thr
ENST00000590360.2:c.148T>A (APOC2)	ENSP00000466775.1:p.Ser50Thr
ENST00000591597.5:c.148T>A (APOC2)	ENSP00000476835.1:p.Ser50Thr
ENST00000592257.5:c.86T>A (APOC2)	ENSP00000477261.1:p.Val29Asp
NM_000483.4:c.148T>A (APOC2)	NP_000474.2:p.Ser50Thr
NR_037932.1:n.1355T>A (APOC4-APOC2)
NM_000483.5:c.148T>A (APOC2) MANE Select	NP_000474.2:p.Ser50Thr