Canonical Allele Identifier: CA1225085509

Gene: PSEN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226896026_226896027delinsTC , CM000663.2:g.226896026_226896027delinsTC	GRCh38
NC_000001.10:g.227083727_227083728delinsTC , CM000663.1:g.227083727_227083728delinsTC	GRCh37
NC_000001.9:g.225150350_225150351delinsTC	NCBI36
NG_007381.1:g.30455_30456delinsTC
NG_012825.2:g.3491_3492delinsTC
NG_007381.2:g.30843_30844delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*447_*448delinsTC	ENSP00000355741.2:n.*447_*448delinsTC
ENST00000366782.6:c.*447_*448delinsTC	ENSP00000355746.2:n.*447_*448delinsTC
ENST00000366783.8:c.*447_*448delinsTC MANE Select	ENSP00000355747.3:n.*447_*448delinsTC
ENST00000471728.2:n.2432_2433delinsTC
ENST00000524196.6:c.*447_*448delinsTC	ENSP00000429036.2:n.*447_*448delinsTC
ENST00000626989.3:c.*447_*448delinsTC	ENSP00000486498.2:n.*447_*448delinsTC
ENST00000676467.1:c.*1621_*1622delinsTC	ENSP00000504294.1:n.*1621_*1622delinsTC
ENST00000676747.1:c.1189-1694_1189-1693delinsTC	ENSP00000503244.1:n.1189-1694_1189-1693delinsTC
ENST00000676884.1:c.*447_*448delinsTC	ENSP00000503200.1:n.*447_*448delinsTC
ENST00000676888.1:c.*1135_*1136delinsTC	ENSP00000504483.1:n.*1135_*1136delinsTC
ENST00000676907.1:c.*1373_*1374delinsTC	ENSP00000504410.1:n.*1373_*1374delinsTC
ENST00000676945.1:c.1191+1901_1191+1902delinsTC	ENSP00000504433.1:n.1191+1901_1191+1902delinsTC
ENST00000677065.1:n.2355_2356delinsTC
ENST00000677414.1:c.*447_*448delinsTC	ENSP00000503116.1:n.*447_*448delinsTC
ENST00000677529.1:n.3524_3525delinsTC
ENST00000677596.1:c.*2016_*2017delinsTC	ENSP00000503618.1:n.*2016_*2017delinsTC
ENST00000677599.1:c.1191+1901_1191+1902delinsTC	ENSP00000503673.1:n.1191+1901_1191+1902delinsTC
ENST00000677748.1:n.4049_4050delinsTC
ENST00000677880.1:c.*447_*448delinsTC	ENSP00000503121.1:n.*447_*448delinsTC
ENST00000678021.1:c.*1417_*1418delinsTC	ENSP00000504674.1:n.*1417_*1418delinsTC
ENST00000678233.1:c.*8+439_*8+440delinsTC	ENSP00000504728.1:n.*8+439_*8+440delinsTC
ENST00000678320.1:c.*447_*448delinsTC	ENSP00000503680.1:n.*447_*448delinsTC
ENST00000678655.1:c.1093-1694_1093-1693delinsTC	ENSP00000504230.1:n.1093-1694_1093-1693delinsTC
ENST00000678706.1:c.*1171_*1172delinsTC	ENSP00000503659.1:n.*1171_*1172delinsTC
ENST00000678776.1:c.*1931_*1932delinsTC	ENSP00000504624.1:n.*1931_*1932delinsTC
ENST00000678784.1:c.1073-1694_1073-1693delinsTC	ENSP00000504652.1:n.1073-1694_1073-1693delinsTC
ENST00000678820.1:c.1090-1694_1090-1693delinsTC	ENSP00000504138.1:n.1090-1694_1090-1693delinsTC
ENST00000678835.1:c.*757-1694_*757-1693delinsTC	ENSP00000504343.1:n.*757-1694_*757-1693delinsTC
ENST00000679088.1:c.*447_*448delinsTC	ENSP00000504727.1:n.*447_*448delinsTC
ENST00000679098.1:c.*8+439_*8+440delinsTC	ENSP00000504303.1:n.*8+439_*8+440delinsTC
ENST00000366782.5:c.*447_*448delinsTC	ENSP00000355746.1:n.*447_*448delinsTC
ENST00000366783.7:c.*447_*448delinsTC	ENSP00000355747.3:n.*447_*448delinsTC
ENST00000626989.2:c.1893_1894delinsTC	ENSP00000486498.1:n.1893_1894delinsTC
NM_000447.2:c.*447_*448delinsTC	NP_000438.2:n.*447_*448delinsTC
NM_012486.2:c.*447_*448delinsTC	NP_036618.2:n.*447_*448delinsTC
XM_005273199.2:c.*447_*448delinsTC	XP_005273256.1:n.*447_*448delinsTC
XM_011544236.1:c.*447_*448delinsTC	XP_011542538.1:n.*447_*448delinsTC
XM_005273199.4:c.*447_*448delinsTC	XP_005273256.1:n.*447_*448delinsTC
XM_017001835.1:c.*447_*448delinsTC	XP_016857324.1:n.*447_*448delinsTC
XM_017001836.1:c.*447_*448delinsTC	XP_016857325.1:n.*447_*448delinsTC
XR_001737316.2:n.1478-1694_1478-1693delinsTC
XR_001737317.2:n.1478-1694_1478-1693delinsTC
XR_001737318.2:n.2509_2510delinsTC
XR_001737319.1:n.2852_2853delinsTC
XR_001737320.1:n.2849_2850delinsTC
XR_001737321.1:n.2344_2345delinsTC
XR_949149.2:n.2506_2507delinsTC
XR_949150.3:n.2725_2726delinsTC
NM_000447.3:c.*447_*448delinsTC MANE Select	NP_000438.2:n.*447_*448delinsTC
NM_012486.3:c.*447_*448delinsTC	NP_036618.2:n.*447_*448delinsTC