Canonical Allele Identifier: CA1143465618

Gene: PSEN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226896058G= , CM000663.2:g.226896058G=	GRCh38
NC_000001.10:g.227083759G= , CM000663.1:g.227083759G=	GRCh37
NC_000001.9:g.225150382G=	NCBI36
NG_007381.1:g.30487G=
NG_012825.2:g.3523G=
NG_007381.2:g.30875G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*479G=	ENSP00000355741.2:n.*479G=
ENST00000366782.6:c.*479G=	ENSP00000355746.2:n.*479G=
ENST00000366783.8:c.*479G= MANE Select	ENSP00000355747.3:n.*479G=
ENST00000471728.2:n.2464G=
ENST00000524196.6:c.*479G=	ENSP00000429036.2:n.*479G=
ENST00000626989.3:c.*479G=	ENSP00000486498.2:n.*479G=
ENST00000676467.1:c.*1653G=	ENSP00000504294.1:n.*1653G=
ENST00000676747.1:c.1189-1662G=	ENSP00000503244.1:n.1189-1662G=
ENST00000676884.1:c.*479G=	ENSP00000503200.1:n.*479G=
ENST00000676888.1:c.*1167G=	ENSP00000504483.1:n.*1167G=
ENST00000676907.1:c.*1405G=	ENSP00000504410.1:n.*1405G=
ENST00000676945.1:c.1191+1933G=	ENSP00000504433.1:n.1191+1933G=
ENST00000677065.1:n.2387G=
ENST00000677414.1:c.*479G=	ENSP00000503116.1:n.*479G=
ENST00000677529.1:n.3556G=
ENST00000677596.1:c.*2048G=	ENSP00000503618.1:n.*2048G=
ENST00000677599.1:c.1191+1933G=	ENSP00000503673.1:n.1191+1933G=
ENST00000677748.1:n.4081G=
ENST00000677880.1:c.*479G=	ENSP00000503121.1:n.*479G=
ENST00000678021.1:c.*1449G=	ENSP00000504674.1:n.*1449G=
ENST00000678233.1:c.*8+471G=	ENSP00000504728.1:n.*8+471G=
ENST00000678320.1:c.*479G=	ENSP00000503680.1:n.*479G=
ENST00000678655.1:c.1093-1662G=	ENSP00000504230.1:n.1093-1662G=
ENST00000678706.1:c.*1203G=	ENSP00000503659.1:n.*1203G=
ENST00000678776.1:c.*1963G=	ENSP00000504624.1:n.*1963G=
ENST00000678784.1:c.1073-1662G=	ENSP00000504652.1:n.1073-1662G=
ENST00000678820.1:c.1090-1662G=	ENSP00000504138.1:n.1090-1662G=
ENST00000678835.1:c.*757-1662G=	ENSP00000504343.1:n.*757-1662G=
ENST00000679088.1:c.*479G=	ENSP00000504727.1:n.*479G=
ENST00000679098.1:c.*8+471G=	ENSP00000504303.1:n.*8+471G=
ENST00000366782.5:c.*479G=	ENSP00000355746.1:n.*479G=
ENST00000366783.7:c.*479G=	ENSP00000355747.3:n.*479G=
ENST00000626989.2:c.1925G=	ENSP00000486498.1:n.1925G=
NM_000447.2:c.*479G=	NP_000438.2:n.*479G=
NM_012486.2:c.*479G=	NP_036618.2:n.*479G=
XM_005273199.2:c.*479G=	XP_005273256.1:n.*479G=
XM_011544236.1:c.*479G=	XP_011542538.1:n.*479G=
XM_005273199.4:c.*479G=	XP_005273256.1:n.*479G=
XM_017001835.1:c.*479G=	XP_016857324.1:n.*479G=
XM_017001836.1:c.*479G=	XP_016857325.1:n.*479G=
XR_001737316.2:n.1478-1662G=
XR_001737317.2:n.1478-1662G=
XR_001737318.2:n.2541G=
XR_001737319.1:n.2884G=
XR_001737320.1:n.2881G=
XR_001737321.1:n.2376G=
XR_949149.2:n.2538G=
XR_949150.3:n.2757G=
NM_000447.3:c.*479G= MANE Select	NP_000438.2:n.*479G=
NM_012486.3:c.*479G=	NP_036618.2:n.*479G=