Canonical Allele Identifier: CA2650788089

Gene: PSEN2

Linked Data

• gnomAD v4: 1-226894244-GAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894246_226894247del , CM000663.2:g.226894246_226894247del	GRCh38
NC_000001.10:g.227081947_227081948del , CM000663.1:g.227081947_227081948del	GRCh37
NC_000001.9:g.225148570_225148571del	NCBI36
NG_007381.1:g.28675_28676del
NG_012825.2:g.1711_1712del
NG_007381.2:g.29063_29064del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1191+121_1191+122del	ENSP00000355741.2:n.1191+121_1191+122del
ENST00000366782.6:c.1191+121_1191+122del	ENSP00000355746.2:n.1191+121_1191+122del
ENST00000366783.8:c.1191+121_1191+122del MANE Select	ENSP00000355747.3:n.1191+121_1191+122del
ENST00000471728.2:n.1829+121_1829+122del
ENST00000524196.6:c.1191+121_1191+122del	ENSP00000429036.2:n.1191+121_1191+122del
ENST00000626989.3:c.1191+121_1191+122del	ENSP00000486498.2:n.1191+121_1191+122del
ENST00000676467.1:c.*1018+121_*1018+122del	ENSP00000504294.1:n.*1018+121_*1018+122del
ENST00000676747.1:c.1188+121_1188+122del	ENSP00000503244.1:n.1188+121_1188+122del
ENST00000676884.1:c.1191+121_1191+122del	ENSP00000503200.1:n.1191+121_1191+122del
ENST00000676888.1:c.*532+121_*532+122del	ENSP00000504483.1:n.*532+121_*532+122del
ENST00000676907.1:c.*770+121_*770+122del	ENSP00000504410.1:n.*770+121_*770+122del
ENST00000676945.1:c.1191+121_1191+122del	ENSP00000504433.1:n.1191+121_1191+122del
ENST00000677065.1:n.1752+121_1752+122del
ENST00000677414.1:c.1191+121_1191+122del	ENSP00000503116.1:n.1191+121_1191+122del
ENST00000677529.1:n.2921+121_2921+122del
ENST00000677596.1:c.*1413+121_*1413+122del	ENSP00000503618.1:n.*1413+121_*1413+122del
ENST00000677599.1:c.1191+121_1191+122del	ENSP00000503673.1:n.1191+121_1191+122del
ENST00000677748.1:n.3446+121_3446+122del
ENST00000677880.1:c.756+121_756+122del	ENSP00000503121.1:n.756+121_756+122del
ENST00000678021.1:c.*814+121_*814+122del	ENSP00000504674.1:n.*814+121_*814+122del
ENST00000678233.1:c.1191+121_1191+122del	ENSP00000504728.1:n.1191+121_1191+122del
ENST00000678320.1:c.1092+121_1092+122del	ENSP00000503680.1:n.1092+121_1092+122del
ENST00000678655.1:c.1092+121_1092+122del	ENSP00000504230.1:n.1092+121_1092+122del
ENST00000678706.1:c.*568+121_*568+122del	ENSP00000503659.1:n.*568+121_*568+122del
ENST00000678776.1:c.*1328+121_*1328+122del	ENSP00000504624.1:n.*1328+121_*1328+122del
ENST00000678784.1:c.1072+2402_1072+2403del	ENSP00000504652.1:n.1072+2402_1072+2403del
ENST00000678820.1:c.1089+121_1089+122del	ENSP00000504138.1:n.1089+121_1089+122del
ENST00000678835.1:c.*756+2402_*756+2403del	ENSP00000504343.1:n.*756+2402_*756+2403del
ENST00000679088.1:c.1191+121_1191+122del	ENSP00000504727.1:n.1191+121_1191+122del
ENST00000679098.1:c.1191+121_1191+122del	ENSP00000504303.1:n.1191+121_1191+122del
ENST00000366782.5:c.1290+121_1290+122del	ENSP00000355746.1:n.1290+121_1290+122del
ENST00000366783.7:c.1191+121_1191+122del	ENSP00000355747.3:n.1191+121_1191+122del
ENST00000422240.6:c.1188+121_1188+122del	ENSP00000403737.2:n.1188+121_1188+122del
ENST00000471728.1:n.449+121_449+122del
ENST00000472139.2:c.759+121_759+122del	ENSP00000427806.1:n.759+121_759+122del
ENST00000626989.2:c.1290+121_1290+122del	ENSP00000486498.1:n.1290+121_1290+122del
NM_000447.2:c.1191+121_1191+122del	NP_000438.2:n.1191+121_1191+122del
NM_012486.2:c.1188+121_1188+122del	NP_036618.2:n.1188+121_1188+122del
XM_005273199.2:c.1191+121_1191+122del	XP_005273256.1:n.1191+121_1191+122del
XM_011544236.1:c.759+121_759+122del	XP_011542538.1:n.759+121_759+122del
XR_949149.1:n.1925+121_1925+122del
XM_005273199.4:c.1191+121_1191+122del	XP_005273256.1:n.1191+121_1191+122del
XM_017001835.1:c.1191+121_1191+122del	XP_016857324.1:n.1191+121_1191+122del
XM_017001836.1:c.1188+121_1188+122del	XP_016857325.1:n.1188+121_1188+122del
XR_001737316.2:n.1477+2402_1477+2403del
XR_001737317.2:n.1477+2402_1477+2403del
XR_001737318.2:n.1906+121_1906+122del
XR_001737319.1:n.2249+121_2249+122del
XR_001737320.1:n.2246+121_2246+122del
XR_001737321.1:n.1741+121_1741+122del
XR_949149.2:n.1903+121_1903+122del
XR_949150.3:n.2122+121_2122+122del
NM_000447.3:c.1191+121_1191+122del MANE Select	NP_000438.2:n.1191+121_1191+122del
NM_012486.3:c.1188+121_1188+122del	NP_036618.2:n.1188+121_1188+122del