Canonical Allele Identifier: CA2650788356

Gene: PSEN2

Linked Data

• gnomAD v4: 1-226895793-C-CCTGTCCGTGAAGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895793_226895794insCTGTCCGTGAAGCG , CM000663.2:g.226895793_226895794insCTGTCCGTGAAGCG	GRCh38
NC_000001.10:g.227083494_227083495insCTGTCCGTGAAGCG , CM000663.1:g.227083494_227083495insCTGTCCGTGAAGCG	GRCh37
NC_000001.9:g.225150117_225150118insCTGTCCGTGAAGCG	NCBI36
NG_007381.1:g.30222_30223insCTGTCCGTGAAGCG
NG_012825.2:g.3258_3259insCTGTCCGTGAAGCG
NG_007381.2:g.30610_30611insCTGTCCGTGAAGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*214_*215insCTGTCCGTGAAGCG	ENSP00000355741.2:n.*214_*215insCTGTCCGTGAAGCG
ENST00000366782.6:c.*214_*215insCTGTCCGTGAAGCG	ENSP00000355746.2:n.*214_*215insCTGTCCGTGAAGCG
ENST00000366783.8:c.*214_*215insCTGTCCGTGAAGCG MANE Select	ENSP00000355747.3:n.*214_*215insCTGTCCGTGAAGCG
ENST00000471728.2:n.2199_2200insCTGTCCGTGAAGCG
ENST00000524196.6:c.*214_*215insCTGTCCGTGAAGCG	ENSP00000429036.2:n.*214_*215insCTGTCCGTGAAGCG
ENST00000626989.3:c.*214_*215insCTGTCCGTGAAGCG	ENSP00000486498.2:n.*214_*215insCTGTCCGTGAAGCG
ENST00000676467.1:c.*1388_*1389insCTGTCCGTGAAGCG	ENSP00000504294.1:n.*1388_*1389insCTGTCCGTGAAGCG
ENST00000676747.1:c.1188+1668_1188+1669insCTGTCCGTGAAGCG	ENSP00000503244.1:n.1188+1668_1188+1669insCTGTCCGTGAAGCG
ENST00000676884.1:c.*214_*215insCTGTCCGTGAAGCG	ENSP00000503200.1:n.*214_*215insCTGTCCGTGAAGCG
ENST00000676888.1:c.*902_*903insCTGTCCGTGAAGCG	ENSP00000504483.1:n.*902_*903insCTGTCCGTGAAGCG
ENST00000676907.1:c.*1140_*1141insCTGTCCGTGAAGCG	ENSP00000504410.1:n.*1140_*1141insCTGTCCGTGAAGCG
ENST00000676945.1:c.1191+1668_1191+1669insCTGTCCGTGAAGCG	ENSP00000504433.1:n.1191+1668_1191+1669insCTGTCCGTGAAGCG
ENST00000677065.1:n.2122_2123insCTGTCCGTGAAGCG
ENST00000677414.1:c.*214_*215insCTGTCCGTGAAGCG	ENSP00000503116.1:n.*214_*215insCTGTCCGTGAAGCG
ENST00000677529.1:n.3291_3292insCTGTCCGTGAAGCG
ENST00000677596.1:c.*1783_*1784insCTGTCCGTGAAGCG	ENSP00000503618.1:n.*1783_*1784insCTGTCCGTGAAGCG
ENST00000677599.1:c.1191+1668_1191+1669insCTGTCCGTGAAGCG	ENSP00000503673.1:n.1191+1668_1191+1669insCTGTCCGTGAAGCG
ENST00000677748.1:n.3816_3817insCTGTCCGTGAAGCG
ENST00000677880.1:c.*214_*215insCTGTCCGTGAAGCG	ENSP00000503121.1:n.*214_*215insCTGTCCGTGAAGCG
ENST00000678021.1:c.*1184_*1185insCTGTCCGTGAAGCG	ENSP00000504674.1:n.*1184_*1185insCTGTCCGTGAAGCG
ENST00000678233.1:c.*8+206_*8+207insCTGTCCGTGAAGCG	ENSP00000504728.1:n.*8+206_*8+207insCTGTCCGTGAAGCG
ENST00000678320.1:c.*214_*215insCTGTCCGTGAAGCG	ENSP00000503680.1:n.*214_*215insCTGTCCGTGAAGCG
ENST00000678655.1:c.1092+1668_1092+1669insCTGTCCGTGAAGCG	ENSP00000504230.1:n.1092+1668_1092+1669insCTGTCCGTGAAGCG
ENST00000678706.1:c.*938_*939insCTGTCCGTGAAGCG	ENSP00000503659.1:n.*938_*939insCTGTCCGTGAAGCG
ENST00000678776.1:c.*1698_*1699insCTGTCCGTGAAGCG	ENSP00000504624.1:n.*1698_*1699insCTGTCCGTGAAGCG
ENST00000678784.1:c.1073-1927_1073-1926insCTGTCCGTGAAGCG	ENSP00000504652.1:n.1073-1927_1073-1926insCTGTCCGTGAAGCG
ENST00000678820.1:c.1089+1668_1089+1669insCTGTCCGTGAAGCG	ENSP00000504138.1:n.1089+1668_1089+1669insCTGTCCGTGAAGCG
ENST00000678835.1:c.*757-1927_*757-1926insCTGTCCGTGAAGCG	ENSP00000504343.1:n.*757-1927_*757-1926insCTGTCCGTGAAGCG
ENST00000679088.1:c.*214_*215insCTGTCCGTGAAGCG	ENSP00000504727.1:n.*214_*215insCTGTCCGTGAAGCG
ENST00000679098.1:c.*8+206_*8+207insCTGTCCGTGAAGCG	ENSP00000504303.1:n.*8+206_*8+207insCTGTCCGTGAAGCG
ENST00000366782.5:c.*214_*215insCTGTCCGTGAAGCG	ENSP00000355746.1:n.*214_*215insCTGTCCGTGAAGCG
ENST00000366783.7:c.*214_*215insCTGTCCGTGAAGCG	ENSP00000355747.3:n.*214_*215insCTGTCCGTGAAGCG
ENST00000422240.6:c.*214_*215insCTGTCCGTGAAGCG	ENSP00000403737.2:n.*214_*215insCTGTCCGTGAAGCG
ENST00000626989.2:c.1660_1661insCTGTCCGTGAAGCG	ENSP00000486498.1:n.1660_1661insCTGTCCGTGAAGCG
NM_000447.2:c.*214_*215insCTGTCCGTGAAGCG	NP_000438.2:n.*214_*215insCTGTCCGTGAAGCG
NM_012486.2:c.*214_*215insCTGTCCGTGAAGCG	NP_036618.2:n.*214_*215insCTGTCCGTGAAGCG
XM_005273199.2:c.*214_*215insCTGTCCGTGAAGCG	XP_005273256.1:n.*214_*215insCTGTCCGTGAAGCG
XM_011544236.1:c.*214_*215insCTGTCCGTGAAGCG	XP_011542538.1:n.*214_*215insCTGTCCGTGAAGCG
XM_005273199.4:c.*214_*215insCTGTCCGTGAAGCG	XP_005273256.1:n.*214_*215insCTGTCCGTGAAGCG
XM_017001835.1:c.*214_*215insCTGTCCGTGAAGCG	XP_016857324.1:n.*214_*215insCTGTCCGTGAAGCG
XM_017001836.1:c.*214_*215insCTGTCCGTGAAGCG	XP_016857325.1:n.*214_*215insCTGTCCGTGAAGCG
XR_001737316.2:n.1478-1927_1478-1926insCTGTCCGTGAAGCG
XR_001737317.2:n.1478-1927_1478-1926insCTGTCCGTGAAGCG
XR_001737318.2:n.2276_2277insCTGTCCGTGAAGCG
XR_001737319.1:n.2619_2620insCTGTCCGTGAAGCG
XR_001737320.1:n.2616_2617insCTGTCCGTGAAGCG
XR_001737321.1:n.2111_2112insCTGTCCGTGAAGCG
XR_949149.2:n.2273_2274insCTGTCCGTGAAGCG
XR_949150.3:n.2492_2493insCTGTCCGTGAAGCG
NM_000447.3:c.*214_*215insCTGTCCGTGAAGCG MANE Select	NP_000438.2:n.*214_*215insCTGTCCGTGAAGCG
NM_012486.3:c.*214_*215insCTGTCCGTGAAGCG	NP_036618.2:n.*214_*215insCTGTCCGTGAAGCG