Canonical Allele Identifier: CA343320507

Gene: APOA2

Linked Data

• dbSNP Id: rs1666185142
• gnomAD v4: 1-161222458-C-T
• MyVariant Identifiers: chr1:g.161192248C>T (hg19) ; chr1:g.161222458C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161222458C>T , CM000663.2:g.161222458C>T	GRCh38
NC_000001.10:g.161192248C>T , CM000663.1:g.161192248C>T	GRCh37
NC_000001.9:g.159458872C>T	NCBI36
NG_012043.1:g.6171G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367990.7:c.250G>A MANE Select	ENSP00000356969.3:p.Val84Ile
ENST00000463273.5:c.250G>A	ENSP00000476740.1:p.Val84Ile
ENST00000463812.1:c.106G>A	ENSP00000476890.1:p.Val36Ile
ENST00000464492.5:c.349G>A	ENSP00000476911.1:p.Val117Ile
ENST00000468465.5:c.106G>A	ENSP00000476662.1:p.Val36Ile
ENST00000470459.6:c.201-5G>A	ENSP00000477031.1:n.201-5G>A
ENST00000481413.1:n.761G>A
ENST00000481511.5:c.*247G>A	ENSP00000477054.1:n.*247G>A
ENST00000491350.1:c.*33G>A	ENSP00000477353.1:n.*33G>A
NM_001643.1:c.250G>A	NP_001634.1:p.Val84Ile
NM_001643.2:c.250G>A MANE Select	NP_001634.1:p.Val84Ile