Canonical Allele Identifier: CA1209093

Gene: APOA2

Linked Data

• dbSNP Id: rs777908160
• ExAC: 1:161192241 A / T
• gnomAD v2: 1-161192241-A-T
• gnomAD v3: 1-161222451-A-T
• gnomAD v4: 1-161222451-A-T
• MyVariant Identifiers: chr1:g.161192241A>T (hg19) ; chr1:g.161222451A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161222451A>T , CM000663.2:g.161222451A>T	GRCh38
NC_000001.10:g.161192241A>T , CM000663.1:g.161192241A>T	GRCh37
NC_000001.9:g.159458865A>T	NCBI36
NG_012043.1:g.6178T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367990.7:c.257T>A MANE Select	ENSP00000356969.3:p.Phe86Tyr
ENST00000463273.5:c.257T>A	ENSP00000476740.1:p.Phe86Tyr
ENST00000463812.1:c.113T>A	ENSP00000476890.1:p.Phe38Tyr
ENST00000464492.5:c.356T>A	ENSP00000476911.1:p.Phe119Tyr
ENST00000468465.5:c.113T>A	ENSP00000476662.1:p.Phe38Tyr
ENST00000470459.6:c.203T>A	ENSP00000477031.1:p.Phe68Tyr
ENST00000481413.1:n.768T>A
ENST00000481511.5:c.*254T>A	ENSP00000477054.1:n.*254T>A
ENST00000491350.1:c.*40T>A	ENSP00000477353.1:n.*40T>A
NM_001643.1:c.257T>A	NP_001634.1:p.Phe86Tyr
NM_001643.2:c.257T>A MANE Select	NP_001634.1:p.Phe86Tyr