Canonical Allele Identifier: CA343050248

Gene: AIM2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.159065966T>C , CM000663.2:g.159065966T>C	GRCh38
NC_000001.10:g.159035756T>C , CM000663.1:g.159035756T>C	GRCh37
NC_000001.9:g.157302380T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_004833.3:c.760A>G MANE Select	NP_004824.1:p.Thr254Ala
ENST00000368130.9:c.760A>G MANE Select	ENSP00000357112.4:p.Thr254Ala
NM_001348247.1:c.445A>G	NP_001335176.1:p.Thr149Ala
NM_001348247.2:c.445A>G	NP_001335176.1:p.Thr149Ala
NM_004833.1:c.760A>G	NP_004824.1:p.Thr254Ala
NM_004833.2:c.760A>G	NP_004824.1:p.Thr254Ala
ENST00000368129.3:c.349A>G	ENSP00000357111.3:p.Thr117Ala
ENST00000368130.8:c.760A>G	ENSP00000357112.4:p.Thr254Ala
ENST00000411768.2:c.760A>G	ENSP00000512039.1:p.Thr254Ala
ENST00000481829.5:n.309A>G
ENST00000612470.1:c.760A>G	ENSP00000483485.1:p.Thr254Ala
ENST00000695579.1:c.349A>G	ENSP00000512038.1:p.Thr117Ala
ENST00000695580.1:c.760A>G	ENSP00000512040.1:p.Thr254Ala
XM_005245616.3:c.445A>G	XP_005245673.1:p.Thr149Ala
XM_005245617.3:c.349A>G	XP_005245674.1:p.Thr117Ala
XM_017002848.1:c.760A>G	XP_016858337.1:p.Thr254Ala
XR_001737544.1:n.914A>G
XR_001737545.1:n.2335A>G
XR_001737546.1:n.1086A>G
XR_001737547.2:n.778A>G