Canonical Allele Identifier: CA996271329

Gene: APOC2 APOC4-APOC2

Linked Data

• gnomAD v3: 19-44948942-TCCTCCCTCAGACCCAGGAGTCCAGGCCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCGTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGA-T
• gnomAD v4: 19-44948942-TCCTCCCTCAGACCCAGGAGTCCAGGCCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCGTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44948945_44949087del , CM000681.2:g.44948945_44949087del	GRCh38
NC_000019.9:g.45452202_45452344del , CM000681.1:g.45452202_45452344del	GRCh37
NC_000019.8:g.50144042_50144184del	NCBI36
NG_008837.1:g.7960_8102del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252490.7:c.215+85_216-72del (APOC2) MANE Select	ENSP00000252490.5:n.215+85_216-72del
ENST00000252490.5:c.215+85_216-72del (APOC4-APOC2)	ENSP00000252490.4:n.215+85_216-72del
ENST00000585685.5:c.*998+85_*999-72del (APOC4-APOC2)	ENSP00000467185.1:n.*998+85_*999-72del
ENST00000585786.1:c.*81_*223del (APOC2)	ENSP00000465001.1:n.*81_*223del
ENST00000589057.5:c.446+85_447-72del (APOC4-APOC2)	ENSP00000468139.1:n.446+85_447-72del
ENST00000590360.2:c.215+85_216-72del (APOC2)	ENSP00000466775.1:n.215+85_216-72del
ENST00000591597.5:c.173+127_174-72del (APOC2)	ENSP00000476835.1:n.173+127_174-72del
ENST00000592257.5:c.*9+85_*10-72del (APOC2)	ENSP00000477261.1:n.*9+85_*10-72del
NM_000483.4:c.215+85_216-72del (APOC2)	NP_000474.2:n.215+85_216-72del
NR_037932.1:n.1422+85_1423-72del (APOC4-APOC2)
NM_000483.5:c.215+85_216-72del (APOC2) MANE Select	NP_000474.2:n.215+85_216-72del