Canonical Allele Identifier: CA2650788271

Gene: PSEN2

Linked Data

• gnomAD v4: 1-226895699-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895700dup , CM000663.2:g.226895700dup	GRCh38
NC_000001.10:g.227083401dup , CM000663.1:g.227083401dup	GRCh37
NC_000001.9:g.225150024dup	NCBI36
NG_007381.1:g.30129dup
NG_012825.2:g.3165dup
NG_007381.2:g.30517dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*121dup	ENSP00000355741.2:n.*121dup
ENST00000366782.6:c.*121dup	ENSP00000355746.2:n.*121dup
ENST00000366783.8:c.*121dup MANE Select	ENSP00000355747.3:n.*121dup
ENST00000471728.2:n.2106dup
ENST00000524196.6:c.*121dup	ENSP00000429036.2:n.*121dup
ENST00000626989.3:c.*121dup	ENSP00000486498.2:n.*121dup
ENST00000676467.1:c.*1295dup	ENSP00000504294.1:n.*1295dup
ENST00000676747.1:c.1188+1575dup	ENSP00000503244.1:n.1188+1575dup
ENST00000676884.1:c.*121dup	ENSP00000503200.1:n.*121dup
ENST00000676888.1:c.*809dup	ENSP00000504483.1:n.*809dup
ENST00000676907.1:c.*1047dup	ENSP00000504410.1:n.*1047dup
ENST00000676945.1:c.1191+1575dup	ENSP00000504433.1:n.1191+1575dup
ENST00000677065.1:n.2029dup
ENST00000677414.1:c.*121dup	ENSP00000503116.1:n.*121dup
ENST00000677529.1:n.3198dup
ENST00000677596.1:c.*1690dup	ENSP00000503618.1:n.*1690dup
ENST00000677599.1:c.1191+1575dup	ENSP00000503673.1:n.1191+1575dup
ENST00000677748.1:n.3723dup
ENST00000677880.1:c.*121dup	ENSP00000503121.1:n.*121dup
ENST00000678021.1:c.*1091dup	ENSP00000504674.1:n.*1091dup
ENST00000678233.1:c.*8+113dup	ENSP00000504728.1:n.*8+113dup
ENST00000678320.1:c.*121dup	ENSP00000503680.1:n.*121dup
ENST00000678655.1:c.1092+1575dup	ENSP00000504230.1:n.1092+1575dup
ENST00000678706.1:c.*845dup	ENSP00000503659.1:n.*845dup
ENST00000678776.1:c.*1605dup	ENSP00000504624.1:n.*1605dup
ENST00000678784.1:c.1073-2020dup	ENSP00000504652.1:n.1073-2020dup
ENST00000678820.1:c.1089+1575dup	ENSP00000504138.1:n.1089+1575dup
ENST00000678835.1:c.*757-2020dup	ENSP00000504343.1:n.*757-2020dup
ENST00000679088.1:c.*121dup	ENSP00000504727.1:n.*121dup
ENST00000679098.1:c.*8+113dup	ENSP00000504303.1:n.*8+113dup
ENST00000366782.5:c.*121dup	ENSP00000355746.1:n.*121dup
ENST00000366783.7:c.*121dup	ENSP00000355747.3:n.*121dup
ENST00000422240.6:c.*121dup	ENSP00000403737.2:n.*121dup
ENST00000626989.2:c.1567dup	ENSP00000486498.1:n.1567dup
NM_000447.2:c.*121dup	NP_000438.2:n.*121dup
NM_012486.2:c.*121dup	NP_036618.2:n.*121dup
XM_005273199.2:c.*121dup	XP_005273256.1:n.*121dup
XM_011544236.1:c.*121dup	XP_011542538.1:n.*121dup
XM_005273199.4:c.*121dup	XP_005273256.1:n.*121dup
XM_017001835.1:c.*121dup	XP_016857324.1:n.*121dup
XM_017001836.1:c.*121dup	XP_016857325.1:n.*121dup
XR_001737316.2:n.1478-2020dup
XR_001737317.2:n.1478-2020dup
XR_001737318.2:n.2183dup
XR_001737319.1:n.2526dup
XR_001737320.1:n.2523dup
XR_001737321.1:n.2018dup
XR_949149.2:n.2180dup
XR_949150.3:n.2399dup
NM_000447.3:c.*121dup MANE Select	NP_000438.2:n.*121dup
NM_012486.3:c.*121dup	NP_036618.2:n.*121dup