Canonical Allele Identifier: CA1141554210

Gene: PSEN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895984G= , CM000663.2:g.226895984G=	GRCh38
NC_000001.10:g.227083685G= , CM000663.1:g.227083685G=	GRCh37
NC_000001.9:g.225150308G=	NCBI36
NG_007381.1:g.30413G=
NG_012825.2:g.3449G=
NG_007381.2:g.30801G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*405G=	ENSP00000355741.2:n.*405G=
ENST00000366782.6:c.*405G=	ENSP00000355746.2:n.*405G=
ENST00000366783.8:c.*405G= MANE Select	ENSP00000355747.3:n.*405G=
ENST00000471728.2:n.2390G=
ENST00000524196.6:c.*405G=	ENSP00000429036.2:n.*405G=
ENST00000626989.3:c.*405G=	ENSP00000486498.2:n.*405G=
ENST00000676467.1:c.*1579G=	ENSP00000504294.1:n.*1579G=
ENST00000676747.1:c.1189-1736G=	ENSP00000503244.1:n.1189-1736G=
ENST00000676884.1:c.*405G=	ENSP00000503200.1:n.*405G=
ENST00000676888.1:c.*1093G=	ENSP00000504483.1:n.*1093G=
ENST00000676907.1:c.*1331G=	ENSP00000504410.1:n.*1331G=
ENST00000676945.1:c.1191+1859G=	ENSP00000504433.1:n.1191+1859G=
ENST00000677065.1:n.2313G=
ENST00000677414.1:c.*405G=	ENSP00000503116.1:n.*405G=
ENST00000677529.1:n.3482G=
ENST00000677596.1:c.*1974G=	ENSP00000503618.1:n.*1974G=
ENST00000677599.1:c.1191+1859G=	ENSP00000503673.1:n.1191+1859G=
ENST00000677748.1:n.4007G=
ENST00000677880.1:c.*405G=	ENSP00000503121.1:n.*405G=
ENST00000678021.1:c.*1375G=	ENSP00000504674.1:n.*1375G=
ENST00000678233.1:c.*8+397G=	ENSP00000504728.1:n.*8+397G=
ENST00000678320.1:c.*405G=	ENSP00000503680.1:n.*405G=
ENST00000678655.1:c.1093-1736G=	ENSP00000504230.1:n.1093-1736G=
ENST00000678706.1:c.*1129G=	ENSP00000503659.1:n.*1129G=
ENST00000678776.1:c.*1889G=	ENSP00000504624.1:n.*1889G=
ENST00000678784.1:c.1073-1736G=	ENSP00000504652.1:n.1073-1736G=
ENST00000678820.1:c.1090-1736G=	ENSP00000504138.1:n.1090-1736G=
ENST00000678835.1:c.*757-1736G=	ENSP00000504343.1:n.*757-1736G=
ENST00000679088.1:c.*405G=	ENSP00000504727.1:n.*405G=
ENST00000679098.1:c.*8+397G=	ENSP00000504303.1:n.*8+397G=
ENST00000366782.5:c.*405G=	ENSP00000355746.1:n.*405G=
ENST00000366783.7:c.*405G=	ENSP00000355747.3:n.*405G=
ENST00000626989.2:c.1851G=	ENSP00000486498.1:n.1851G=
NM_000447.2:c.*405G=	NP_000438.2:n.*405G=
NM_012486.2:c.*405G=	NP_036618.2:n.*405G=
XM_005273199.2:c.*405G=	XP_005273256.1:n.*405G=
XM_011544236.1:c.*405G=	XP_011542538.1:n.*405G=
XM_005273199.4:c.*405G=	XP_005273256.1:n.*405G=
XM_017001835.1:c.*405G=	XP_016857324.1:n.*405G=
XM_017001836.1:c.*405G=	XP_016857325.1:n.*405G=
XR_001737316.2:n.1478-1736G=
XR_001737317.2:n.1478-1736G=
XR_001737318.2:n.2467G=
XR_001737319.1:n.2810G=
XR_001737320.1:n.2807G=
XR_001737321.1:n.2302G=
XR_949149.2:n.2464G=
XR_949150.3:n.2683G=
NM_000447.3:c.*405G= MANE Select	NP_000438.2:n.*405G=
NM_012486.3:c.*405G=	NP_036618.2:n.*405G=