Canonical Allele Identifier: CA1225072636

Gene: PSEN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226870566T= , CM000663.2:g.226870566T=	GRCh38
NC_000001.10:g.227058267T= , CM000663.1:g.227058267T=	GRCh37
NC_000001.9:g.225124890T=	NCBI36
NG_007381.1:g.4995T=
NG_007381.2:g.5383T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.-350+61T=	ENSP00000355741.2:n.-350+61T=
ENST00000524196.6:c.-350+61T=	ENSP00000429036.2:n.-350+61T=
ENST00000676884.1:c.-350+61T=	ENSP00000503200.1:n.-350+61T=
ENST00000676888.1:c.-350+61T=	ENSP00000504483.1:n.-350+61T=
ENST00000676907.1:c.-433T=	ENSP00000504410.1:n.-433T=
ENST00000676945.1:c.-433T=	ENSP00000504433.1:n.-433T=
ENST00000677529.1:n.6T=
ENST00000677599.1:c.-433T=	ENSP00000503673.1:n.-433T=
ENST00000677748.1:n.6T=
ENST00000678233.1:c.-433T=	ENSP00000504728.1:n.-433T=
ENST00000678320.1:c.-433T=	ENSP00000503680.1:n.-433T=
ENST00000678655.1:c.-433T=	ENSP00000504230.1:n.-433T=
ENST00000678706.1:c.-433T=	ENSP00000503659.1:n.-433T=
ENST00000678820.1:c.-433T=	ENSP00000504138.1:n.-433T=
ENST00000678835.1:c.-433T=	ENSP00000504343.1:n.-433T=
ENST00000679098.1:c.-433T=	ENSP00000504303.1:n.-433T=
ENST00000366783.7:c.-433T=	ENSP00000355747.3:n.-433T=
ENST00000524196.5:c.-350+61T=	ENSP00000429036.1:n.-350+61T=