Canonical Allele Identifier: CA996271300

Gene: APOC2 APOC4-APOC2

Linked Data

• gnomAD v3: 19-44948927-TCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCGTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGACCCTCCTCCCTCAGACCCAGGAGTC-T
• gnomAD v4: 19-44948927-TCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCGTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGACCCTCCTCCCTCAGACCCAGGAGTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44948936_44949118del , CM000681.2:g.44948936_44949118del	GRCh38
NC_000019.9:g.45452193_45452375del , CM000681.1:g.45452193_45452375del	GRCh37
NC_000019.8:g.50144033_50144215del	NCBI36
NG_008837.1:g.7951_8133del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252490.7:c.215+76_216-41del (APOC2) MANE Select	ENSP00000252490.5:n.215+76_216-41del
ENST00000252490.5:c.215+76_216-41del (APOC4-APOC2)	ENSP00000252490.4:n.215+76_216-41del
ENST00000585685.5:c.*998+76_*999-41del (APOC4-APOC2)	ENSP00000467185.1:n.*998+76_*999-41del
ENST00000585786.1:c.*72_*254del (APOC2)	ENSP00000465001.1:n.*72_*254del
ENST00000589057.5:c.446+76_447-41del (APOC4-APOC2)	ENSP00000468139.1:n.446+76_447-41del
ENST00000590360.2:c.215+76_216-41del (APOC2)	ENSP00000466775.1:n.215+76_216-41del
ENST00000591597.5:c.173+118_174-41del (APOC2)	ENSP00000476835.1:n.173+118_174-41del
ENST00000592257.5:c.*9+76_*10-41del (APOC2)	ENSP00000477261.1:n.*9+76_*10-41del
NM_000483.4:c.215+76_216-41del (APOC2)	NP_000474.2:n.215+76_216-41del
NR_037932.1:n.1422+76_1423-41del (APOC4-APOC2)
NM_000483.5:c.215+76_216-41del (APOC2) MANE Select	NP_000474.2:n.215+76_216-41del