Canonical Allele Identifier: CA1225085426

Gene: PSEN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895830T= , CM000663.2:g.226895830T=	GRCh38
NC_000001.10:g.227083531T= , CM000663.1:g.227083531T=	GRCh37
NC_000001.9:g.225150154T=	NCBI36
NG_007381.1:g.30259T=
NG_012825.2:g.3295T=
NG_007381.2:g.30647T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*251T=	ENSP00000355741.2:n.*251T=
ENST00000366782.6:c.*251T=	ENSP00000355746.2:n.*251T=
ENST00000366783.8:c.*251T= MANE Select	ENSP00000355747.3:n.*251T=
ENST00000471728.2:n.2236T=
ENST00000524196.6:c.*251T=	ENSP00000429036.2:n.*251T=
ENST00000626989.3:c.*251T=	ENSP00000486498.2:n.*251T=
ENST00000676467.1:c.*1425T=	ENSP00000504294.1:n.*1425T=
ENST00000676747.1:c.1188+1705T=	ENSP00000503244.1:n.1188+1705T=
ENST00000676884.1:c.*251T=	ENSP00000503200.1:n.*251T=
ENST00000676888.1:c.*939T=	ENSP00000504483.1:n.*939T=
ENST00000676907.1:c.*1177T=	ENSP00000504410.1:n.*1177T=
ENST00000676945.1:c.1191+1705T=	ENSP00000504433.1:n.1191+1705T=
ENST00000677065.1:n.2159T=
ENST00000677414.1:c.*251T=	ENSP00000503116.1:n.*251T=
ENST00000677529.1:n.3328T=
ENST00000677596.1:c.*1820T=	ENSP00000503618.1:n.*1820T=
ENST00000677599.1:c.1191+1705T=	ENSP00000503673.1:n.1191+1705T=
ENST00000677748.1:n.3853T=
ENST00000677880.1:c.*251T=	ENSP00000503121.1:n.*251T=
ENST00000678021.1:c.*1221T=	ENSP00000504674.1:n.*1221T=
ENST00000678233.1:c.*8+243T=	ENSP00000504728.1:n.*8+243T=
ENST00000678320.1:c.*251T=	ENSP00000503680.1:n.*251T=
ENST00000678655.1:c.1092+1705T=	ENSP00000504230.1:n.1092+1705T=
ENST00000678706.1:c.*975T=	ENSP00000503659.1:n.*975T=
ENST00000678776.1:c.*1735T=	ENSP00000504624.1:n.*1735T=
ENST00000678784.1:c.1073-1890T=	ENSP00000504652.1:n.1073-1890T=
ENST00000678820.1:c.1089+1705T=	ENSP00000504138.1:n.1089+1705T=
ENST00000678835.1:c.*757-1890T=	ENSP00000504343.1:n.*757-1890T=
ENST00000679088.1:c.*251T=	ENSP00000504727.1:n.*251T=
ENST00000679098.1:c.*8+243T=	ENSP00000504303.1:n.*8+243T=
ENST00000366782.5:c.*251T=	ENSP00000355746.1:n.*251T=
ENST00000366783.7:c.*251T=	ENSP00000355747.3:n.*251T=
ENST00000626989.2:c.1697T=	ENSP00000486498.1:n.1697T=
NM_000447.2:c.*251T=	NP_000438.2:n.*251T=
NM_012486.2:c.*251T=	NP_036618.2:n.*251T=
XM_005273199.2:c.*251T=	XP_005273256.1:n.*251T=
XM_011544236.1:c.*251T=	XP_011542538.1:n.*251T=
XM_005273199.4:c.*251T=	XP_005273256.1:n.*251T=
XM_017001835.1:c.*251T=	XP_016857324.1:n.*251T=
XM_017001836.1:c.*251T=	XP_016857325.1:n.*251T=
XR_001737316.2:n.1478-1890T=
XR_001737317.2:n.1478-1890T=
XR_001737318.2:n.2313T=
XR_001737319.1:n.2656T=
XR_001737320.1:n.2653T=
XR_001737321.1:n.2148T=
XR_949149.2:n.2310T=
XR_949150.3:n.2529T=
NM_000447.3:c.*251T= MANE Select	NP_000438.2:n.*251T=
NM_012486.3:c.*251T=	NP_036618.2:n.*251T=