Canonical Allele Identifier: CA1209096

Gene: APOA2

Linked Data

• ClinVar Variation Id: 632643
• ClinVar RCV Id: RCV000779745
• dbSNP Id: rs5088
• ExAC: 1:161192251 G / A
• gnomAD v2: 1-161192251-G-A
• gnomAD v3: 1-161222461-G-A
• gnomAD v4: 1-161222461-G-A
• MyVariant Identifiers: chr1:g.161192251G>A (hg19) ; chr1:g.161222461G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161222461G>A , CM000663.2:g.161222461G>A	GRCh38
NC_000001.10:g.161192251G>A , CM000663.1:g.161192251G>A	GRCh37
NC_000001.9:g.159458875G>A	NCBI36
NG_012043.1:g.6168C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367990.7:c.247C>T MANE Select	ENSP00000356969.3:p.Leu83=
ENST00000463273.5:c.247C>T	ENSP00000476740.1:p.Leu83=
ENST00000463812.1:c.103C>T	ENSP00000476890.1:p.Leu35=
ENST00000464492.5:c.346C>T	ENSP00000476911.1:p.Leu116=
ENST00000468465.5:c.103C>T	ENSP00000476662.1:p.Leu35=
ENST00000470459.6:c.201-8C>T	ENSP00000477031.1:n.201-8C>T
ENST00000481413.1:n.758C>T
ENST00000481511.5:c.*244C>T	ENSP00000477054.1:n.*244C>T
ENST00000491350.1:c.*30C>T	ENSP00000477353.1:n.*30C>T
NM_001643.1:c.247C>T	NP_001634.1:p.Leu83=
NM_001643.2:c.247C>T MANE Select	NP_001634.1:p.Leu83=