Canonical Allele Identifier: CA343320320

Gene: APOA2

Linked Data

• MyVariant Identifiers: chr1:g.161192198C>A (hg19) ; chr1:g.161222408C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161222408C>A , CM000663.2:g.161222408C>A	GRCh38
NC_000001.10:g.161192198C>A , CM000663.1:g.161192198C>A	GRCh37
NC_000001.9:g.159458822C>A	NCBI36
NG_012043.1:g.6221G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367990.7:c.300G>T MANE Select	ENSP00000356969.3:p.Gln100His
ENST00000463812.1:c.156G>T	ENSP00000476890.1:p.Gln52His
ENST00000464492.5:c.399G>T	ENSP00000476911.1:p.Gln133His
ENST00000468465.5:c.156G>T	ENSP00000476662.1:p.Gln52His
ENST00000470459.6:c.246G>T	ENSP00000477031.1:p.Gln82His
ENST00000481413.1:n.811G>T
ENST00000481511.5:c.*297G>T	ENSP00000477054.1:n.*297G>T
ENST00000491350.1:c.*83G>T	ENSP00000477353.1:n.*83G>T
NM_001643.1:c.300G>T	NP_001634.1:p.Gln100His
NM_001643.2:c.300G>T MANE Select	NP_001634.1:p.Gln100His