Canonical Allele Identifier: CA2650788231

Gene: PSEN2

Linked Data

• gnomAD v4: 1-226895616-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895620del , CM000663.2:g.226895620del	GRCh38
NC_000001.10:g.227083321del , CM000663.1:g.227083321del	GRCh37
NC_000001.9:g.225149944del	NCBI36
NG_007381.1:g.30049del
NG_012825.2:g.3085del
NG_007381.2:g.30437del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*41del	ENSP00000355741.2:n.*41del
ENST00000366782.6:c.*41del	ENSP00000355746.2:n.*41del
ENST00000366783.8:c.*41del MANE Select	ENSP00000355747.3:n.*41del
ENST00000471728.2:n.2026del
ENST00000524196.6:c.*41del	ENSP00000429036.2:n.*41del
ENST00000626989.3:c.*41del	ENSP00000486498.2:n.*41del
ENST00000676467.1:c.*1215del	ENSP00000504294.1:n.*1215del
ENST00000676747.1:c.1188+1495del	ENSP00000503244.1:n.1188+1495del
ENST00000676884.1:c.*41del	ENSP00000503200.1:n.*41del
ENST00000676888.1:c.*729del	ENSP00000504483.1:n.*729del
ENST00000676907.1:c.*967del	ENSP00000504410.1:n.*967del
ENST00000676945.1:c.1191+1495del	ENSP00000504433.1:n.1191+1495del
ENST00000677065.1:n.1949del
ENST00000677414.1:c.*41del	ENSP00000503116.1:n.*41del
ENST00000677529.1:n.3118del
ENST00000677596.1:c.*1610del	ENSP00000503618.1:n.*1610del
ENST00000677599.1:c.1191+1495del	ENSP00000503673.1:n.1191+1495del
ENST00000677748.1:n.3643del
ENST00000677880.1:c.*41del	ENSP00000503121.1:n.*41del
ENST00000678021.1:c.*1011del	ENSP00000504674.1:n.*1011del
ENST00000678233.1:c.*8+33del	ENSP00000504728.1:n.*8+33del
ENST00000678320.1:c.*41del	ENSP00000503680.1:n.*41del
ENST00000678655.1:c.1092+1495del	ENSP00000504230.1:n.1092+1495del
ENST00000678706.1:c.*765del	ENSP00000503659.1:n.*765del
ENST00000678776.1:c.*1525del	ENSP00000504624.1:n.*1525del
ENST00000678784.1:c.1073-2100del	ENSP00000504652.1:n.1073-2100del
ENST00000678820.1:c.1089+1495del	ENSP00000504138.1:n.1089+1495del
ENST00000678835.1:c.*757-2100del	ENSP00000504343.1:n.*757-2100del
ENST00000679088.1:c.*41del	ENSP00000504727.1:n.*41del
ENST00000679098.1:c.*8+33del	ENSP00000504303.1:n.*8+33del
ENST00000366782.5:c.*41del	ENSP00000355746.1:n.*41del
ENST00000366783.7:c.*41del	ENSP00000355747.3:n.*41del
ENST00000422240.6:c.*41del	ENSP00000403737.2:n.*41del
ENST00000472139.2:c.*41del	ENSP00000427806.1:n.*41del
ENST00000626989.2:c.1487del	ENSP00000486498.1:n.1487del
NM_000447.2:c.*41del	NP_000438.2:n.*41del
NM_012486.2:c.*41del	NP_036618.2:n.*41del
XM_005273199.2:c.*41del	XP_005273256.1:n.*41del
XM_011544236.1:c.*41del	XP_011542538.1:n.*41del
XM_005273199.4:c.*41del	XP_005273256.1:n.*41del
XM_017001835.1:c.*41del	XP_016857324.1:n.*41del
XM_017001836.1:c.*41del	XP_016857325.1:n.*41del
XR_001737316.2:n.1478-2100del
XR_001737317.2:n.1478-2100del
XR_001737318.2:n.2103del
XR_001737319.1:n.2446del
XR_001737320.1:n.2443del
XR_001737321.1:n.1938del
XR_949149.2:n.2100del
XR_949150.3:n.2319del
NM_000447.3:c.*41del MANE Select	NP_000438.2:n.*41del
NM_012486.3:c.*41del	NP_036618.2:n.*41del