Canonical Allele Identifier: CA1225085517

Gene: PSEN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226896055G= , CM000663.2:g.226896055G=	GRCh38
NC_000001.10:g.227083756G= , CM000663.1:g.227083756G=	GRCh37
NC_000001.9:g.225150379G=	NCBI36
NG_007381.1:g.30484G=
NG_012825.2:g.3520G=
NG_007381.2:g.30872G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*476G=	ENSP00000355741.2:n.*476G=
ENST00000366782.6:c.*476G=	ENSP00000355746.2:n.*476G=
ENST00000366783.8:c.*476G= MANE Select	ENSP00000355747.3:n.*476G=
ENST00000471728.2:n.2461G=
ENST00000524196.6:c.*476G=	ENSP00000429036.2:n.*476G=
ENST00000626989.3:c.*476G=	ENSP00000486498.2:n.*476G=
ENST00000676467.1:c.*1650G=	ENSP00000504294.1:n.*1650G=
ENST00000676747.1:c.1189-1665G=	ENSP00000503244.1:n.1189-1665G=
ENST00000676884.1:c.*476G=	ENSP00000503200.1:n.*476G=
ENST00000676888.1:c.*1164G=	ENSP00000504483.1:n.*1164G=
ENST00000676907.1:c.*1402G=	ENSP00000504410.1:n.*1402G=
ENST00000676945.1:c.1191+1930G=	ENSP00000504433.1:n.1191+1930G=
ENST00000677065.1:n.2384G=
ENST00000677414.1:c.*476G=	ENSP00000503116.1:n.*476G=
ENST00000677529.1:n.3553G=
ENST00000677596.1:c.*2045G=	ENSP00000503618.1:n.*2045G=
ENST00000677599.1:c.1191+1930G=	ENSP00000503673.1:n.1191+1930G=
ENST00000677748.1:n.4078G=
ENST00000677880.1:c.*476G=	ENSP00000503121.1:n.*476G=
ENST00000678021.1:c.*1446G=	ENSP00000504674.1:n.*1446G=
ENST00000678233.1:c.*8+468G=	ENSP00000504728.1:n.*8+468G=
ENST00000678320.1:c.*476G=	ENSP00000503680.1:n.*476G=
ENST00000678655.1:c.1093-1665G=	ENSP00000504230.1:n.1093-1665G=
ENST00000678706.1:c.*1200G=	ENSP00000503659.1:n.*1200G=
ENST00000678776.1:c.*1960G=	ENSP00000504624.1:n.*1960G=
ENST00000678784.1:c.1073-1665G=	ENSP00000504652.1:n.1073-1665G=
ENST00000678820.1:c.1090-1665G=	ENSP00000504138.1:n.1090-1665G=
ENST00000678835.1:c.*757-1665G=	ENSP00000504343.1:n.*757-1665G=
ENST00000679088.1:c.*476G=	ENSP00000504727.1:n.*476G=
ENST00000679098.1:c.*8+468G=	ENSP00000504303.1:n.*8+468G=
ENST00000366782.5:c.*476G=	ENSP00000355746.1:n.*476G=
ENST00000366783.7:c.*476G=	ENSP00000355747.3:n.*476G=
ENST00000626989.2:c.1922G=	ENSP00000486498.1:n.1922G=
NM_000447.2:c.*476G=	NP_000438.2:n.*476G=
NM_012486.2:c.*476G=	NP_036618.2:n.*476G=
XM_005273199.2:c.*476G=	XP_005273256.1:n.*476G=
XM_011544236.1:c.*476G=	XP_011542538.1:n.*476G=
XM_005273199.4:c.*476G=	XP_005273256.1:n.*476G=
XM_017001835.1:c.*476G=	XP_016857324.1:n.*476G=
XM_017001836.1:c.*476G=	XP_016857325.1:n.*476G=
XR_001737316.2:n.1478-1665G=
XR_001737317.2:n.1478-1665G=
XR_001737318.2:n.2538G=
XR_001737319.1:n.2881G=
XR_001737320.1:n.2878G=
XR_001737321.1:n.2373G=
XR_949149.2:n.2535G=
XR_949150.3:n.2754G=
NM_000447.3:c.*476G= MANE Select	NP_000438.2:n.*476G=
NM_012486.3:c.*476G=	NP_036618.2:n.*476G=