Canonical Allele Identifier: CA115621
Gene: APOC2 HGNC NCBI
APOC4-APOC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2581
ClinVar RCV Id: RCV000002697
dbSNP Id: rs120074114

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44948767A>C , CM000681.2:g.44948767A>C GRCh38
NC_000019.9:g.45452024A>C , CM000681.1:g.45452024A>C GRCh37
NC_000019.8:g.50143864A>C NCBI36
NG_008837.1:g.7782A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252490.7:c.122A>C MANE Select ENSP00000252490.5:p.Lys41Thr
ENST00000252490.5:c.122A>C ENSP00000252490.4:p.Lys41Thr
ENST00000585685.5:c.*905A>C ENSP00000467185.1:p.=
ENST00000585786.1:c.122A>C ENSP00000465001.1:p.Lys41Thr
ENST00000589057.5:c.353A>C ENSP00000468139.1:p.Lys118Thr
ENST00000590360.2:c.122A>C ENSP00000466775.1:p.Lys41Thr
ENST00000591597.5:c.122A>C ENSP00000476835.1:p.Lys41Thr
ENST00000592257.5:c.60A>C ENSP00000477261.1:p.Glu20Asp
NM_000483.4:c.122A>C (APOC2) NP_000474.2:p.Lys41Thr
NR_037932.1:n.1329A>C (APOC4-APOC2)
NM_000483.5:c.122A>C (APOC2) MANE Select NP_000474.2:p.Lys41Thr