Canonical Allele Identifier: CA1225085492

Gene: PSEN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895977_226895978delinsTG , CM000663.2:g.226895977_226895978delinsTG	GRCh38
NC_000001.10:g.227083678_227083679delinsTG , CM000663.1:g.227083678_227083679delinsTG	GRCh37
NC_000001.9:g.225150301_225150302delinsTG	NCBI36
NG_007381.1:g.30406_30407delinsTG
NG_012825.2:g.3442_3443delinsTG
NG_007381.2:g.30794_30795delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*398_*399delinsTG	ENSP00000355741.2:n.*398_*399delinsTG
ENST00000366782.6:c.*398_*399delinsTG	ENSP00000355746.2:n.*398_*399delinsTG
ENST00000366783.8:c.*398_*399delinsTG MANE Select	ENSP00000355747.3:n.*398_*399delinsTG
ENST00000471728.2:n.2383_2384delinsTG
ENST00000524196.6:c.*398_*399delinsTG	ENSP00000429036.2:n.*398_*399delinsTG
ENST00000626989.3:c.*398_*399delinsTG	ENSP00000486498.2:n.*398_*399delinsTG
ENST00000676467.1:c.*1572_*1573delinsTG	ENSP00000504294.1:n.*1572_*1573delinsTG
ENST00000676747.1:c.1189-1743_1189-1742delinsTG	ENSP00000503244.1:n.1189-1743_1189-1742delinsTG
ENST00000676884.1:c.*398_*399delinsTG	ENSP00000503200.1:n.*398_*399delinsTG
ENST00000676888.1:c.*1086_*1087delinsTG	ENSP00000504483.1:n.*1086_*1087delinsTG
ENST00000676907.1:c.*1324_*1325delinsTG	ENSP00000504410.1:n.*1324_*1325delinsTG
ENST00000676945.1:c.1191+1852_1191+1853delinsTG	ENSP00000504433.1:n.1191+1852_1191+1853delinsTG
ENST00000677065.1:n.2306_2307delinsTG
ENST00000677414.1:c.*398_*399delinsTG	ENSP00000503116.1:n.*398_*399delinsTG
ENST00000677529.1:n.3475_3476delinsTG
ENST00000677596.1:c.*1967_*1968delinsTG	ENSP00000503618.1:n.*1967_*1968delinsTG
ENST00000677599.1:c.1191+1852_1191+1853delinsTG	ENSP00000503673.1:n.1191+1852_1191+1853delinsTG
ENST00000677748.1:n.4000_4001delinsTG
ENST00000677880.1:c.*398_*399delinsTG	ENSP00000503121.1:n.*398_*399delinsTG
ENST00000678021.1:c.*1368_*1369delinsTG	ENSP00000504674.1:n.*1368_*1369delinsTG
ENST00000678233.1:c.*8+390_*8+391delinsTG	ENSP00000504728.1:n.*8+390_*8+391delinsTG
ENST00000678320.1:c.*398_*399delinsTG	ENSP00000503680.1:n.*398_*399delinsTG
ENST00000678655.1:c.1093-1743_1093-1742delinsTG	ENSP00000504230.1:n.1093-1743_1093-1742delinsTG
ENST00000678706.1:c.*1122_*1123delinsTG	ENSP00000503659.1:n.*1122_*1123delinsTG
ENST00000678776.1:c.*1882_*1883delinsTG	ENSP00000504624.1:n.*1882_*1883delinsTG
ENST00000678784.1:c.1073-1743_1073-1742delinsTG	ENSP00000504652.1:n.1073-1743_1073-1742delinsTG
ENST00000678820.1:c.1090-1743_1090-1742delinsTG	ENSP00000504138.1:n.1090-1743_1090-1742delinsTG
ENST00000678835.1:c.*757-1743_*757-1742delinsTG	ENSP00000504343.1:n.*757-1743_*757-1742delinsTG
ENST00000679088.1:c.*398_*399delinsTG	ENSP00000504727.1:n.*398_*399delinsTG
ENST00000679098.1:c.*8+390_*8+391delinsTG	ENSP00000504303.1:n.*8+390_*8+391delinsTG
ENST00000366782.5:c.*398_*399delinsTG	ENSP00000355746.1:n.*398_*399delinsTG
ENST00000366783.7:c.*398_*399delinsTG	ENSP00000355747.3:n.*398_*399delinsTG
ENST00000626989.2:c.1844_1845delinsTG	ENSP00000486498.1:n.1844_1845delinsTG
NM_000447.2:c.*398_*399delinsTG	NP_000438.2:n.*398_*399delinsTG
NM_012486.2:c.*398_*399delinsTG	NP_036618.2:n.*398_*399delinsTG
XM_005273199.2:c.*398_*399delinsTG	XP_005273256.1:n.*398_*399delinsTG
XM_011544236.1:c.*398_*399delinsTG	XP_011542538.1:n.*398_*399delinsTG
XM_005273199.4:c.*398_*399delinsTG	XP_005273256.1:n.*398_*399delinsTG
XM_017001835.1:c.*398_*399delinsTG	XP_016857324.1:n.*398_*399delinsTG
XM_017001836.1:c.*398_*399delinsTG	XP_016857325.1:n.*398_*399delinsTG
XR_001737316.2:n.1478-1743_1478-1742delinsTG
XR_001737317.2:n.1478-1743_1478-1742delinsTG
XR_001737318.2:n.2460_2461delinsTG
XR_001737319.1:n.2803_2804delinsTG
XR_001737320.1:n.2800_2801delinsTG
XR_001737321.1:n.2295_2296delinsTG
XR_949149.2:n.2457_2458delinsTG
XR_949150.3:n.2676_2677delinsTG
NM_000447.3:c.*398_*399delinsTG MANE Select	NP_000438.2:n.*398_*399delinsTG
NM_012486.3:c.*398_*399delinsTG	NP_036618.2:n.*398_*399delinsTG