Canonical Allele Identifier: CA2650788398

Gene: PSEN2

Linked Data

• gnomAD v4: 1-226895831-GAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895834_226895836del , CM000663.2:g.226895834_226895836del	GRCh38
NC_000001.10:g.227083535_227083537del , CM000663.1:g.227083535_227083537del	GRCh37
NC_000001.9:g.225150158_225150160del	NCBI36
NG_007381.1:g.30263_30265del
NG_012825.2:g.3299_3301del
NG_007381.2:g.30651_30653del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*255_*257del	ENSP00000355741.2:n.*255_*257del
ENST00000366782.6:c.*255_*257del	ENSP00000355746.2:n.*255_*257del
ENST00000366783.8:c.*255_*257del MANE Select	ENSP00000355747.3:n.*255_*257del
ENST00000471728.2:n.2240_2242del
ENST00000524196.6:c.*255_*257del	ENSP00000429036.2:n.*255_*257del
ENST00000626989.3:c.*255_*257del	ENSP00000486498.2:n.*255_*257del
ENST00000676467.1:c.*1429_*1431del	ENSP00000504294.1:n.*1429_*1431del
ENST00000676747.1:c.1188+1709_1188+1711del	ENSP00000503244.1:n.1188+1709_1188+1711del
ENST00000676884.1:c.*255_*257del	ENSP00000503200.1:n.*255_*257del
ENST00000676888.1:c.*943_*945del	ENSP00000504483.1:n.*943_*945del
ENST00000676907.1:c.*1181_*1183del	ENSP00000504410.1:n.*1181_*1183del
ENST00000676945.1:c.1191+1709_1191+1711del	ENSP00000504433.1:n.1191+1709_1191+1711del
ENST00000677065.1:n.2163_2165del
ENST00000677414.1:c.*255_*257del	ENSP00000503116.1:n.*255_*257del
ENST00000677529.1:n.3332_3334del
ENST00000677596.1:c.*1824_*1826del	ENSP00000503618.1:n.*1824_*1826del
ENST00000677599.1:c.1191+1709_1191+1711del	ENSP00000503673.1:n.1191+1709_1191+1711del
ENST00000677748.1:n.3857_3859del
ENST00000677880.1:c.*255_*257del	ENSP00000503121.1:n.*255_*257del
ENST00000678021.1:c.*1225_*1227del	ENSP00000504674.1:n.*1225_*1227del
ENST00000678233.1:c.*8+247_*8+249del	ENSP00000504728.1:n.*8+247_*8+249del
ENST00000678320.1:c.*255_*257del	ENSP00000503680.1:n.*255_*257del
ENST00000678655.1:c.1092+1709_1092+1711del	ENSP00000504230.1:n.1092+1709_1092+1711del
ENST00000678706.1:c.*979_*981del	ENSP00000503659.1:n.*979_*981del
ENST00000678776.1:c.*1739_*1741del	ENSP00000504624.1:n.*1739_*1741del
ENST00000678784.1:c.1073-1886_1073-1884del	ENSP00000504652.1:n.1073-1886_1073-1884del
ENST00000678820.1:c.1089+1709_1089+1711del	ENSP00000504138.1:n.1089+1709_1089+1711del
ENST00000678835.1:c.*757-1886_*757-1884del	ENSP00000504343.1:n.*757-1886_*757-1884del
ENST00000679088.1:c.*255_*257del	ENSP00000504727.1:n.*255_*257del
ENST00000679098.1:c.*8+247_*8+249del	ENSP00000504303.1:n.*8+247_*8+249del
ENST00000366782.5:c.*255_*257del	ENSP00000355746.1:n.*255_*257del
ENST00000366783.7:c.*255_*257del	ENSP00000355747.3:n.*255_*257del
ENST00000626989.2:c.1701_1703del	ENSP00000486498.1:n.1701_1703del
NM_000447.2:c.*255_*257del	NP_000438.2:n.*255_*257del
NM_012486.2:c.*255_*257del	NP_036618.2:n.*255_*257del
XM_005273199.2:c.*255_*257del	XP_005273256.1:n.*255_*257del
XM_011544236.1:c.*255_*257del	XP_011542538.1:n.*255_*257del
XM_005273199.4:c.*255_*257del	XP_005273256.1:n.*255_*257del
XM_017001835.1:c.*255_*257del	XP_016857324.1:n.*255_*257del
XM_017001836.1:c.*255_*257del	XP_016857325.1:n.*255_*257del
XR_001737316.2:n.1478-1886_1478-1884del
XR_001737317.2:n.1478-1886_1478-1884del
XR_001737318.2:n.2317_2319del
XR_001737319.1:n.2660_2662del
XR_001737320.1:n.2657_2659del
XR_001737321.1:n.2152_2154del
XR_949149.2:n.2314_2316del
XR_949150.3:n.2533_2535del
NM_000447.3:c.*255_*257del MANE Select	NP_000438.2:n.*255_*257del
NM_012486.3:c.*255_*257del	NP_036618.2:n.*255_*257del