Canonical Allele Identifier: CA1225085391

Gene: PSEN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895751C= , CM000663.2:g.226895751C=	GRCh38
NC_000001.10:g.227083452C= , CM000663.1:g.227083452C=	GRCh37
NC_000001.9:g.225150075C=	NCBI36
NG_007381.1:g.30180C=
NG_012825.2:g.3216C=
NG_007381.2:g.30568C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*172C=	ENSP00000355741.2:n.*172C=
ENST00000366782.6:c.*172C=	ENSP00000355746.2:n.*172C=
ENST00000366783.8:c.*172C= MANE Select	ENSP00000355747.3:n.*172C=
ENST00000471728.2:n.2157C=
ENST00000524196.6:c.*172C=	ENSP00000429036.2:n.*172C=
ENST00000626989.3:c.*172C=	ENSP00000486498.2:n.*172C=
ENST00000676467.1:c.*1346C=	ENSP00000504294.1:n.*1346C=
ENST00000676747.1:c.1188+1626C=	ENSP00000503244.1:n.1188+1626C=
ENST00000676884.1:c.*172C=	ENSP00000503200.1:n.*172C=
ENST00000676888.1:c.*860C=	ENSP00000504483.1:n.*860C=
ENST00000676907.1:c.*1098C=	ENSP00000504410.1:n.*1098C=
ENST00000676945.1:c.1191+1626C=	ENSP00000504433.1:n.1191+1626C=
ENST00000677065.1:n.2080C=
ENST00000677414.1:c.*172C=	ENSP00000503116.1:n.*172C=
ENST00000677529.1:n.3249C=
ENST00000677596.1:c.*1741C=	ENSP00000503618.1:n.*1741C=
ENST00000677599.1:c.1191+1626C=	ENSP00000503673.1:n.1191+1626C=
ENST00000677748.1:n.3774C=
ENST00000677880.1:c.*172C=	ENSP00000503121.1:n.*172C=
ENST00000678021.1:c.*1142C=	ENSP00000504674.1:n.*1142C=
ENST00000678233.1:c.*8+164C=	ENSP00000504728.1:n.*8+164C=
ENST00000678320.1:c.*172C=	ENSP00000503680.1:n.*172C=
ENST00000678655.1:c.1092+1626C=	ENSP00000504230.1:n.1092+1626C=
ENST00000678706.1:c.*896C=	ENSP00000503659.1:n.*896C=
ENST00000678776.1:c.*1656C=	ENSP00000504624.1:n.*1656C=
ENST00000678784.1:c.1073-1969C=	ENSP00000504652.1:n.1073-1969C=
ENST00000678820.1:c.1089+1626C=	ENSP00000504138.1:n.1089+1626C=
ENST00000678835.1:c.*757-1969C=	ENSP00000504343.1:n.*757-1969C=
ENST00000679088.1:c.*172C=	ENSP00000504727.1:n.*172C=
ENST00000679098.1:c.*8+164C=	ENSP00000504303.1:n.*8+164C=
ENST00000366782.5:c.*172C=	ENSP00000355746.1:n.*172C=
ENST00000366783.7:c.*172C=	ENSP00000355747.3:n.*172C=
ENST00000422240.6:c.*172C=	ENSP00000403737.2:n.*172C=
ENST00000626989.2:c.1618C=	ENSP00000486498.1:n.1618C=
NM_000447.2:c.*172C=	NP_000438.2:n.*172C=
NM_012486.2:c.*172C=	NP_036618.2:n.*172C=
XM_005273199.2:c.*172C=	XP_005273256.1:n.*172C=
XM_011544236.1:c.*172C=	XP_011542538.1:n.*172C=
XM_005273199.4:c.*172C=	XP_005273256.1:n.*172C=
XM_017001835.1:c.*172C=	XP_016857324.1:n.*172C=
XM_017001836.1:c.*172C=	XP_016857325.1:n.*172C=
XR_001737316.2:n.1478-1969C=
XR_001737317.2:n.1478-1969C=
XR_001737318.2:n.2234C=
XR_001737319.1:n.2577C=
XR_001737320.1:n.2574C=
XR_001737321.1:n.2069C=
XR_949149.2:n.2231C=
XR_949150.3:n.2450C=
NM_000447.3:c.*172C= MANE Select	NP_000438.2:n.*172C=
NM_012486.3:c.*172C=	NP_036618.2:n.*172C=