Canonical Allele Identifier: CA343320513

Gene: APOA2

Linked Data

• MyVariant Identifiers: chr1:g.161192248C>G (hg19) ; chr1:g.161222458C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367990.7:c.250G>C MANE Select	ENSP00000356969.3:p.Val84Leu
ENST00000463273.5:c.250G>C	ENSP00000476740.1:p.Val84Leu
ENST00000463812.1:c.106G>C	ENSP00000476890.1:p.Val36Leu
ENST00000464492.5:c.349G>C	ENSP00000476911.1:p.Val117Leu
ENST00000468465.5:c.106G>C	ENSP00000476662.1:p.Val36Leu
ENST00000470459.6:c.201-5G>C	ENSP00000477031.1:n.201-5G>C
ENST00000481413.1:n.761G>C
ENST00000481511.5:c.*247G>C	ENSP00000477054.1:n.*247G>C
ENST00000491350.1:c.*33G>C	ENSP00000477353.1:n.*33G>C
NM_001643.1:c.250G>C	NP_001634.1:p.Val84Leu
NM_001643.2:c.250G>C MANE Select	NP_001634.1:p.Val84Leu