Canonical Allele Identifier: CA2650788610

Gene: PSEN2

Linked Data

• gnomAD v4: 1-226896071-ATC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226896072_226896073del , CM000663.2:g.226896072_226896073del	GRCh38
NC_000001.10:g.227083773_227083774del , CM000663.1:g.227083773_227083774del	GRCh37
NC_000001.9:g.225150396_225150397del	NCBI36
NG_007381.1:g.30501_30502del
NG_012825.2:g.3537_3538del
NG_007381.2:g.30889_30890del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*493_*494del	ENSP00000355741.2:n.*493_*494del
ENST00000366782.6:c.*493_*494del	ENSP00000355746.2:n.*493_*494del
ENST00000366783.8:c.*493_*494del MANE Select	ENSP00000355747.3:n.*493_*494del
ENST00000471728.2:n.2478_2479del
ENST00000524196.6:c.*493_*494del	ENSP00000429036.2:n.*493_*494del
ENST00000626989.3:c.*493_*494del	ENSP00000486498.2:n.*493_*494del
ENST00000676467.1:c.*1667_*1668del	ENSP00000504294.1:n.*1667_*1668del
ENST00000676747.1:c.1189-1648_1189-1647del	ENSP00000503244.1:n.1189-1648_1189-1647del
ENST00000676884.1:c.*493_*494del	ENSP00000503200.1:n.*493_*494del
ENST00000676888.1:c.*1181_*1182del	ENSP00000504483.1:n.*1181_*1182del
ENST00000676907.1:c.*1419_*1420del	ENSP00000504410.1:n.*1419_*1420del
ENST00000676945.1:c.1191+1947_1191+1948del	ENSP00000504433.1:n.1191+1947_1191+1948del
ENST00000677065.1:n.2401_2402del
ENST00000677414.1:c.*493_*494del	ENSP00000503116.1:n.*493_*494del
ENST00000677529.1:n.3570_3571del
ENST00000677596.1:c.*2062_*2063del	ENSP00000503618.1:n.*2062_*2063del
ENST00000677599.1:c.1191+1947_1191+1948del	ENSP00000503673.1:n.1191+1947_1191+1948del
ENST00000677748.1:n.4095_4096del
ENST00000677880.1:c.*493_*494del	ENSP00000503121.1:n.*493_*494del
ENST00000678021.1:c.*1463_*1464del	ENSP00000504674.1:n.*1463_*1464del
ENST00000678233.1:c.*8+485_*8+486del	ENSP00000504728.1:n.*8+485_*8+486del
ENST00000678320.1:c.*493_*494del	ENSP00000503680.1:n.*493_*494del
ENST00000678655.1:c.1093-1648_1093-1647del	ENSP00000504230.1:n.1093-1648_1093-1647del
ENST00000678706.1:c.*1217_*1218del	ENSP00000503659.1:n.*1217_*1218del
ENST00000678776.1:c.*1977_*1978del	ENSP00000504624.1:n.*1977_*1978del
ENST00000678784.1:c.1073-1648_1073-1647del	ENSP00000504652.1:n.1073-1648_1073-1647del
ENST00000678820.1:c.1090-1648_1090-1647del	ENSP00000504138.1:n.1090-1648_1090-1647del
ENST00000678835.1:c.*757-1648_*757-1647del	ENSP00000504343.1:n.*757-1648_*757-1647del
ENST00000679088.1:c.*493_*494del	ENSP00000504727.1:n.*493_*494del
ENST00000679098.1:c.*8+485_*8+486del	ENSP00000504303.1:n.*8+485_*8+486del
ENST00000366782.5:c.*493_*494del	ENSP00000355746.1:n.*493_*494del
ENST00000366783.7:c.*493_*494del	ENSP00000355747.3:n.*493_*494del
ENST00000626989.2:c.1939_1940del	ENSP00000486498.1:n.1939_1940del
NM_000447.2:c.*493_*494del	NP_000438.2:n.*493_*494del
NM_012486.2:c.*493_*494del	NP_036618.2:n.*493_*494del
XM_005273199.2:c.*493_*494del	XP_005273256.1:n.*493_*494del
XM_011544236.1:c.*493_*494del	XP_011542538.1:n.*493_*494del
XM_005273199.4:c.*493_*494del	XP_005273256.1:n.*493_*494del
XM_017001835.1:c.*493_*494del	XP_016857324.1:n.*493_*494del
XM_017001836.1:c.*493_*494del	XP_016857325.1:n.*493_*494del
XR_001737316.2:n.1478-1648_1478-1647del
XR_001737317.2:n.1478-1648_1478-1647del
XR_001737318.2:n.2555_2556del
XR_001737319.1:n.2898_2899del
XR_001737320.1:n.2895_2896del
XR_001737321.1:n.2390_2391del
XR_949149.2:n.2552_2553del
XR_949150.3:n.2771_2772del
NM_000447.3:c.*493_*494del MANE Select	NP_000438.2:n.*493_*494del
NM_012486.3:c.*493_*494del	NP_036618.2:n.*493_*494del