Canonical Allele Identifier: CA1225084839

Gene: PSEN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894452_226894453delinsGA , CM000663.2:g.226894452_226894453delinsGA	GRCh38
NC_000001.10:g.227082153_227082154delinsGA , CM000663.1:g.227082153_227082154delinsGA	GRCh37
NC_000001.9:g.225148776_225148777delinsGA	NCBI36
NG_007381.1:g.28881_28882delinsGA
NG_012825.2:g.1917_1918delinsGA
NG_007381.2:g.29269_29270delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1191+327_1191+328delinsGA	ENSP00000355741.2:n.1191+327_1191+328delinsGA
ENST00000366782.6:c.1191+327_1191+328delinsGA	ENSP00000355746.2:n.1191+327_1191+328delinsGA
ENST00000366783.8:c.1191+327_1191+328delinsGA MANE Select	ENSP00000355747.3:n.1191+327_1191+328delinsGA
ENST00000471728.2:n.1829+327_1829+328delinsGA
ENST00000524196.6:c.1191+327_1191+328delinsGA	ENSP00000429036.2:n.1191+327_1191+328delinsGA
ENST00000626989.3:c.1191+327_1191+328delinsGA	ENSP00000486498.2:n.1191+327_1191+328delinsGA
ENST00000676467.1:c.*1018+327_*1018+328delinsGA	ENSP00000504294.1:n.*1018+327_*1018+328delinsGA
ENST00000676747.1:c.1188+327_1188+328delinsGA	ENSP00000503244.1:n.1188+327_1188+328delinsGA
ENST00000676884.1:c.1191+327_1191+328delinsGA	ENSP00000503200.1:n.1191+327_1191+328delinsGA
ENST00000676888.1:c.*532+327_*532+328delinsGA	ENSP00000504483.1:n.*532+327_*532+328delinsGA
ENST00000676907.1:c.*770+327_*770+328delinsGA	ENSP00000504410.1:n.*770+327_*770+328delinsGA
ENST00000676945.1:c.1191+327_1191+328delinsGA	ENSP00000504433.1:n.1191+327_1191+328delinsGA
ENST00000677065.1:n.1752+327_1752+328delinsGA
ENST00000677414.1:c.1191+327_1191+328delinsGA	ENSP00000503116.1:n.1191+327_1191+328delinsGA
ENST00000677529.1:n.2921+327_2921+328delinsGA
ENST00000677596.1:c.*1413+327_*1413+328delinsGA	ENSP00000503618.1:n.*1413+327_*1413+328delinsGA
ENST00000677599.1:c.1191+327_1191+328delinsGA	ENSP00000503673.1:n.1191+327_1191+328delinsGA
ENST00000677748.1:n.3446+327_3446+328delinsGA
ENST00000677880.1:c.756+327_756+328delinsGA	ENSP00000503121.1:n.756+327_756+328delinsGA
ENST00000678021.1:c.*814+327_*814+328delinsGA	ENSP00000504674.1:n.*814+327_*814+328delinsGA
ENST00000678233.1:c.1191+327_1191+328delinsGA	ENSP00000504728.1:n.1191+327_1191+328delinsGA
ENST00000678320.1:c.1092+327_1092+328delinsGA	ENSP00000503680.1:n.1092+327_1092+328delinsGA
ENST00000678655.1:c.1092+327_1092+328delinsGA	ENSP00000504230.1:n.1092+327_1092+328delinsGA
ENST00000678706.1:c.*568+327_*568+328delinsGA	ENSP00000503659.1:n.*568+327_*568+328delinsGA
ENST00000678776.1:c.*1328+327_*1328+328delinsGA	ENSP00000504624.1:n.*1328+327_*1328+328delinsGA
ENST00000678784.1:c.1072+2608_1072+2609delinsGA	ENSP00000504652.1:n.1072+2608_1072+2609delinsGA
ENST00000678820.1:c.1089+327_1089+328delinsGA	ENSP00000504138.1:n.1089+327_1089+328delinsGA
ENST00000678835.1:c.*756+2608_*756+2609delinsGA	ENSP00000504343.1:n.*756+2608_*756+2609delinsGA
ENST00000679088.1:c.1191+327_1191+328delinsGA	ENSP00000504727.1:n.1191+327_1191+328delinsGA
ENST00000679098.1:c.1191+327_1191+328delinsGA	ENSP00000504303.1:n.1191+327_1191+328delinsGA
ENST00000366782.5:c.1290+327_1290+328delinsGA	ENSP00000355746.1:n.1290+327_1290+328delinsGA
ENST00000366783.7:c.1191+327_1191+328delinsGA	ENSP00000355747.3:n.1191+327_1191+328delinsGA
ENST00000422240.6:c.1188+327_1188+328delinsGA	ENSP00000403737.2:n.1188+327_1188+328delinsGA
ENST00000471728.1:n.449+327_449+328delinsGA
ENST00000472139.2:c.759+327_759+328delinsGA	ENSP00000427806.1:n.759+327_759+328delinsGA
ENST00000626989.2:c.1290+327_1290+328delinsGA	ENSP00000486498.1:n.1290+327_1290+328delinsGA
NM_000447.2:c.1191+327_1191+328delinsGA	NP_000438.2:n.1191+327_1191+328delinsGA
NM_012486.2:c.1188+327_1188+328delinsGA	NP_036618.2:n.1188+327_1188+328delinsGA
XM_005273199.2:c.1191+327_1191+328delinsGA	XP_005273256.1:n.1191+327_1191+328delinsGA
XM_011544236.1:c.759+327_759+328delinsGA	XP_011542538.1:n.759+327_759+328delinsGA
XR_949149.1:n.1925+327_1925+328delinsGA
XM_005273199.4:c.1191+327_1191+328delinsGA	XP_005273256.1:n.1191+327_1191+328delinsGA
XM_017001835.1:c.1191+327_1191+328delinsGA	XP_016857324.1:n.1191+327_1191+328delinsGA
XM_017001836.1:c.1188+327_1188+328delinsGA	XP_016857325.1:n.1188+327_1188+328delinsGA
XR_001737316.2:n.1477+2608_1477+2609delinsGA
XR_001737317.2:n.1477+2608_1477+2609delinsGA
XR_001737318.2:n.1906+327_1906+328delinsGA
XR_001737319.1:n.2249+327_2249+328delinsGA
XR_001737320.1:n.2246+327_2246+328delinsGA
XR_001737321.1:n.1741+327_1741+328delinsGA
XR_949149.2:n.1903+327_1903+328delinsGA
XR_949150.3:n.2122+327_2122+328delinsGA
NM_000447.3:c.1191+327_1191+328delinsGA MANE Select	NP_000438.2:n.1191+327_1191+328delinsGA
NM_012486.3:c.1188+327_1188+328delinsGA	NP_036618.2:n.1188+327_1188+328delinsGA