Canonical Allele Identifier: CA2747996992

Gene: PSEN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895689_226895690insT , CM000663.2:g.226895689_226895690insT	GRCh38
NC_000001.10:g.227083390_227083391insT , CM000663.1:g.227083390_227083391insT	GRCh37
NC_000001.9:g.225150013_225150014insT	NCBI36
NG_007381.1:g.30118_30119insT
NG_012825.2:g.3154_3155insT
NG_007381.2:g.30506_30507insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*110_*111insT	ENSP00000355741.2:n.*110_*111insT
ENST00000366782.6:c.*110_*111insT	ENSP00000355746.2:n.*110_*111insT
ENST00000366783.8:c.*110_*111insT MANE Select	ENSP00000355747.3:n.*110_*111insT
ENST00000471728.2:n.2095_2096insT
ENST00000524196.6:c.*110_*111insT	ENSP00000429036.2:n.*110_*111insT
ENST00000626989.3:c.*110_*111insT	ENSP00000486498.2:n.*110_*111insT
ENST00000676467.1:c.*1284_*1285insT	ENSP00000504294.1:n.*1284_*1285insT
ENST00000676747.1:c.1188+1564_1188+1565insT	ENSP00000503244.1:n.1188+1564_1188+1565insT
ENST00000676884.1:c.*110_*111insT	ENSP00000503200.1:n.*110_*111insT
ENST00000676888.1:c.*798_*799insT	ENSP00000504483.1:n.*798_*799insT
ENST00000676907.1:c.*1036_*1037insT	ENSP00000504410.1:n.*1036_*1037insT
ENST00000676945.1:c.1191+1564_1191+1565insT	ENSP00000504433.1:n.1191+1564_1191+1565insT
ENST00000677065.1:n.2018_2019insT
ENST00000677414.1:c.*110_*111insT	ENSP00000503116.1:n.*110_*111insT
ENST00000677529.1:n.3187_3188insT
ENST00000677596.1:c.*1679_*1680insT	ENSP00000503618.1:n.*1679_*1680insT
ENST00000677599.1:c.1191+1564_1191+1565insT	ENSP00000503673.1:n.1191+1564_1191+1565insT
ENST00000677748.1:n.3712_3713insT
ENST00000677880.1:c.*110_*111insT	ENSP00000503121.1:n.*110_*111insT
ENST00000678021.1:c.*1080_*1081insT	ENSP00000504674.1:n.*1080_*1081insT
ENST00000678233.1:c.*8+102_*8+103insT	ENSP00000504728.1:n.*8+102_*8+103insT
ENST00000678320.1:c.*110_*111insT	ENSP00000503680.1:n.*110_*111insT
ENST00000678655.1:c.1092+1564_1092+1565insT	ENSP00000504230.1:n.1092+1564_1092+1565insT
ENST00000678706.1:c.*834_*835insT	ENSP00000503659.1:n.*834_*835insT
ENST00000678776.1:c.*1594_*1595insT	ENSP00000504624.1:n.*1594_*1595insT
ENST00000678784.1:c.1073-2031_1073-2030insT	ENSP00000504652.1:n.1073-2031_1073-2030insT
ENST00000678820.1:c.1089+1564_1089+1565insT	ENSP00000504138.1:n.1089+1564_1089+1565insT
ENST00000678835.1:c.*757-2031_*757-2030insT	ENSP00000504343.1:n.*757-2031_*757-2030insT
ENST00000679088.1:c.*110_*111insT	ENSP00000504727.1:n.*110_*111insT
ENST00000679098.1:c.*8+102_*8+103insT	ENSP00000504303.1:n.*8+102_*8+103insT
ENST00000366782.5:c.*110_*111insT	ENSP00000355746.1:n.*110_*111insT
ENST00000366783.7:c.*110_*111insT	ENSP00000355747.3:n.*110_*111insT
ENST00000422240.6:c.*110_*111insT	ENSP00000403737.2:n.*110_*111insT
ENST00000472139.2:c.*110_*111insT	ENSP00000427806.1:n.*110_*111insT
ENST00000626989.2:c.1556_1557insT	ENSP00000486498.1:n.1556_1557insT
NM_000447.2:c.*110_*111insT	NP_000438.2:n.*110_*111insT
NM_012486.2:c.*110_*111insT	NP_036618.2:n.*110_*111insT
XM_005273199.2:c.*110_*111insT	XP_005273256.1:n.*110_*111insT
XM_011544236.1:c.*110_*111insT	XP_011542538.1:n.*110_*111insT
XM_005273199.4:c.*110_*111insT	XP_005273256.1:n.*110_*111insT
XM_017001835.1:c.*110_*111insT	XP_016857324.1:n.*110_*111insT
XM_017001836.1:c.*110_*111insT	XP_016857325.1:n.*110_*111insT
XR_001737316.2:n.1478-2031_1478-2030insT
XR_001737317.2:n.1478-2031_1478-2030insT
XR_001737318.2:n.2172_2173insT
XR_001737319.1:n.2515_2516insT
XR_001737320.1:n.2512_2513insT
XR_001737321.1:n.2007_2008insT
XR_949149.2:n.2169_2170insT
XR_949150.3:n.2388_2389insT
NM_000447.3:c.*110_*111insT MANE Select	NP_000438.2:n.*110_*111insT
NM_012486.3:c.*110_*111insT	NP_036618.2:n.*110_*111insT