Canonical Allele Identifier: CA406295095

Gene: APOC2 APOC4-APOC2

Linked Data

• dbSNP Id: rs1339593526
• gnomAD v2: 19-45452423-T-C
• gnomAD v3: 19-44949166-T-C
• gnomAD v4: 19-44949166-T-C
• MyVariant Identifiers: chr19:g.45452423T>C (hg19) ; chr19:g.44949166T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44949166T>C , CM000681.2:g.44949166T>C	GRCh38
NC_000019.9:g.45452423T>C , CM000681.1:g.45452423T>C	GRCh37
NC_000019.8:g.50144263T>C	NCBI36
NG_008837.1:g.8181T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252490.7:c.223T>C (APOC2) MANE Select	ENSP00000252490.5:p.Tyr75His
ENST00000252490.5:c.223T>C (APOC4-APOC2)	ENSP00000252490.4:p.Tyr75His
ENST00000585685.5:c.*1006T>C (APOC4-APOC2)	ENSP00000467185.1:n.*1006T>C
ENST00000585786.1:c.*302T>C (APOC2)	ENSP00000465001.1:n.*302T>C
ENST00000589057.5:c.454T>C (APOC4-APOC2)	ENSP00000468139.1:p.Tyr152His
ENST00000590360.2:c.223T>C (APOC2)	ENSP00000466775.1:p.Tyr75His
ENST00000591597.5:c.181T>C (APOC2)	ENSP00000476835.1:p.Tyr61His
ENST00000592257.5:c.*17T>C (APOC2)	ENSP00000477261.1:n.*17T>C
NM_000483.4:c.223T>C (APOC2)	NP_000474.2:p.Tyr75His
NR_037932.1:n.1430T>C (APOC4-APOC2)
NM_000483.5:c.223T>C (APOC2) MANE Select	NP_000474.2:p.Tyr75His