Canonical Allele Identifier: CA1225084627

Gene: PSEN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894020T= , CM000663.2:g.226894020T=	GRCh38
NC_000001.10:g.227081721T= , CM000663.1:g.227081721T=	GRCh37
NC_000001.9:g.225148344T=	NCBI36
NG_007381.1:g.28449T=
NG_012825.2:g.1485T=
NG_007381.2:g.28837T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1086T=	ENSP00000355741.2:p.Leu362=
ENST00000366782.6:c.1086T=	ENSP00000355746.2:p.Leu362=
ENST00000366783.8:c.1086T= MANE Select	ENSP00000355747.3:p.Leu362=
ENST00000471728.2:n.1724T=
ENST00000524196.6:c.1086T=	ENSP00000429036.2:p.Leu362=
ENST00000626989.3:c.1086T=	ENSP00000486498.2:p.Leu362=
ENST00000676467.1:c.*913T=	ENSP00000504294.1:n.*913T=
ENST00000676747.1:c.1083T=	ENSP00000503244.1:p.Leu361=
ENST00000676884.1:c.1086T=	ENSP00000503200.1:p.Leu362=
ENST00000676888.1:c.*427T=	ENSP00000504483.1:n.*427T=
ENST00000676907.1:c.*665T=	ENSP00000504410.1:n.*665T=
ENST00000676945.1:c.1086T=	ENSP00000504433.1:p.Leu362=
ENST00000677065.1:n.1647T=
ENST00000677414.1:c.1086T=	ENSP00000503116.1:p.Leu362=
ENST00000677529.1:n.2816T=
ENST00000677596.1:c.*1308T=	ENSP00000503618.1:n.*1308T=
ENST00000677599.1:c.1086T=	ENSP00000503673.1:p.Leu362=
ENST00000677748.1:n.3341T=
ENST00000677880.1:c.651T=	ENSP00000503121.1:p.Leu217=
ENST00000678021.1:c.*709T=	ENSP00000504674.1:n.*709T=
ENST00000678233.1:c.1086T=	ENSP00000504728.1:p.Leu362=
ENST00000678320.1:c.987T=	ENSP00000503680.1:p.Leu329=
ENST00000678655.1:c.987T=	ENSP00000504230.1:p.Leu329=
ENST00000678706.1:c.*463T=	ENSP00000503659.1:n.*463T=
ENST00000678776.1:c.*1223T=	ENSP00000504624.1:n.*1223T=
ENST00000678784.1:c.1072+2176T=	ENSP00000504652.1:n.1072+2176T=
ENST00000678820.1:c.984T=	ENSP00000504138.1:p.Leu328=
ENST00000678835.1:c.*756+2176T=	ENSP00000504343.1:n.*756+2176T=
ENST00000679088.1:c.1086T=	ENSP00000504727.1:p.Leu362=
ENST00000679098.1:c.1086T=	ENSP00000504303.1:p.Leu362=
ENST00000366782.5:c.1185T=	ENSP00000355746.1:p.Leu395=
ENST00000366783.7:c.1086T=	ENSP00000355747.3:p.Leu362=
ENST00000422240.6:c.1083T=	ENSP00000403737.2:p.Leu361=
ENST00000471728.1:n.344T=
ENST00000472139.2:c.654T=	ENSP00000427806.1:p.Leu218=
ENST00000626989.2:c.1185T=	ENSP00000486498.1:p.Leu395=
NM_000447.2:c.1086T=	NP_000438.2:p.Leu362=
NM_012486.2:c.1083T=	NP_036618.2:p.Leu361=
XM_005273199.2:c.1086T=	XP_005273256.1:p.Leu362=
XM_011544236.1:c.654T=	XP_011542538.1:p.Leu218=
XR_949149.1:n.1820T=
XM_005273199.4:c.1086T=	XP_005273256.1:p.Leu362=
XM_017001835.1:c.1086T=	XP_016857324.1:p.Leu362=
XM_017001836.1:c.1083T=	XP_016857325.1:p.Leu361=
XR_001737316.2:n.1477+2176T=
XR_001737317.2:n.1477+2176T=
XR_001737318.2:n.1801T=
XR_001737319.1:n.2144T=
XR_001737320.1:n.2141T=
XR_001737321.1:n.1636T=
XR_949149.2:n.1798T=
XR_949150.3:n.2017T=
NM_000447.3:c.1086T= MANE Select	NP_000438.2:p.Leu362=
NM_012486.3:c.1083T=	NP_036618.2:p.Leu361=