Canonical Allele Identifier: CA2650788604

Gene: PSEN2

Linked Data

• gnomAD v4: 1-226896057-G-GACTCTA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226896057_226896058insACTCTA , CM000663.2:g.226896057_226896058insACTCTA	GRCh38
NC_000001.10:g.227083758_227083759insACTCTA , CM000663.1:g.227083758_227083759insACTCTA	GRCh37
NC_000001.9:g.225150381_225150382insACTCTA	NCBI36
NG_007381.1:g.30486_30487insACTCTA
NG_012825.2:g.3522_3523insACTCTA
NG_007381.2:g.30874_30875insACTCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*478_*479insACTCTA	ENSP00000355741.2:n.*478_*479insACTCTA
ENST00000366782.6:c.*478_*479insACTCTA	ENSP00000355746.2:n.*478_*479insACTCTA
ENST00000366783.8:c.*478_*479insACTCTA MANE Select	ENSP00000355747.3:n.*478_*479insACTCTA
ENST00000471728.2:n.2463_2464insACTCTA
ENST00000524196.6:c.*478_*479insACTCTA	ENSP00000429036.2:n.*478_*479insACTCTA
ENST00000626989.3:c.*478_*479insACTCTA	ENSP00000486498.2:n.*478_*479insACTCTA
ENST00000676467.1:c.*1652_*1653insACTCTA	ENSP00000504294.1:n.*1652_*1653insACTCTA
ENST00000676747.1:c.1189-1663_1189-1662insACTCTA	ENSP00000503244.1:n.1189-1663_1189-1662insACTCTA
ENST00000676884.1:c.*478_*479insACTCTA	ENSP00000503200.1:n.*478_*479insACTCTA
ENST00000676888.1:c.*1166_*1167insACTCTA	ENSP00000504483.1:n.*1166_*1167insACTCTA
ENST00000676907.1:c.*1404_*1405insACTCTA	ENSP00000504410.1:n.*1404_*1405insACTCTA
ENST00000676945.1:c.1191+1932_1191+1933insACTCTA	ENSP00000504433.1:n.1191+1932_1191+1933insACTCTA
ENST00000677065.1:n.2386_2387insACTCTA
ENST00000677414.1:c.*478_*479insACTCTA	ENSP00000503116.1:n.*478_*479insACTCTA
ENST00000677529.1:n.3555_3556insACTCTA
ENST00000677596.1:c.*2047_*2048insACTCTA	ENSP00000503618.1:n.*2047_*2048insACTCTA
ENST00000677599.1:c.1191+1932_1191+1933insACTCTA	ENSP00000503673.1:n.1191+1932_1191+1933insACTCTA
ENST00000677748.1:n.4080_4081insACTCTA
ENST00000677880.1:c.*478_*479insACTCTA	ENSP00000503121.1:n.*478_*479insACTCTA
ENST00000678021.1:c.*1448_*1449insACTCTA	ENSP00000504674.1:n.*1448_*1449insACTCTA
ENST00000678233.1:c.*8+470_*8+471insACTCTA	ENSP00000504728.1:n.*8+470_*8+471insACTCTA
ENST00000678320.1:c.*478_*479insACTCTA	ENSP00000503680.1:n.*478_*479insACTCTA
ENST00000678655.1:c.1093-1663_1093-1662insACTCTA	ENSP00000504230.1:n.1093-1663_1093-1662insACTCTA
ENST00000678706.1:c.*1202_*1203insACTCTA	ENSP00000503659.1:n.*1202_*1203insACTCTA
ENST00000678776.1:c.*1962_*1963insACTCTA	ENSP00000504624.1:n.*1962_*1963insACTCTA
ENST00000678784.1:c.1073-1663_1073-1662insACTCTA	ENSP00000504652.1:n.1073-1663_1073-1662insACTCTA
ENST00000678820.1:c.1090-1663_1090-1662insACTCTA	ENSP00000504138.1:n.1090-1663_1090-1662insACTCTA
ENST00000678835.1:c.*757-1663_*757-1662insACTCTA	ENSP00000504343.1:n.*757-1663_*757-1662insACTCTA
ENST00000679088.1:c.*478_*479insACTCTA	ENSP00000504727.1:n.*478_*479insACTCTA
ENST00000679098.1:c.*8+470_*8+471insACTCTA	ENSP00000504303.1:n.*8+470_*8+471insACTCTA
ENST00000366782.5:c.*478_*479insACTCTA	ENSP00000355746.1:n.*478_*479insACTCTA
ENST00000366783.7:c.*478_*479insACTCTA	ENSP00000355747.3:n.*478_*479insACTCTA
ENST00000626989.2:c.1924_1925insACTCTA	ENSP00000486498.1:n.1924_1925insACTCTA
NM_000447.2:c.*478_*479insACTCTA	NP_000438.2:n.*478_*479insACTCTA
NM_012486.2:c.*478_*479insACTCTA	NP_036618.2:n.*478_*479insACTCTA
XM_005273199.2:c.*478_*479insACTCTA	XP_005273256.1:n.*478_*479insACTCTA
XM_011544236.1:c.*478_*479insACTCTA	XP_011542538.1:n.*478_*479insACTCTA
XM_005273199.4:c.*478_*479insACTCTA	XP_005273256.1:n.*478_*479insACTCTA
XM_017001835.1:c.*478_*479insACTCTA	XP_016857324.1:n.*478_*479insACTCTA
XM_017001836.1:c.*478_*479insACTCTA	XP_016857325.1:n.*478_*479insACTCTA
XR_001737316.2:n.1478-1663_1478-1662insACTCTA
XR_001737317.2:n.1478-1663_1478-1662insACTCTA
XR_001737318.2:n.2540_2541insACTCTA
XR_001737319.1:n.2883_2884insACTCTA
XR_001737320.1:n.2880_2881insACTCTA
XR_001737321.1:n.2375_2376insACTCTA
XR_949149.2:n.2537_2538insACTCTA
XR_949150.3:n.2756_2757insACTCTA
NM_000447.3:c.*478_*479insACTCTA MANE Select	NP_000438.2:n.*478_*479insACTCTA
NM_012486.3:c.*478_*479insACTCTA	NP_036618.2:n.*478_*479insACTCTA