Canonical Allele Identifier: CA1225084620

Gene: PSEN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226893994_226893997delinsTCTC , CM000663.2:g.226893994_226893997delinsTCTC	GRCh38
NC_000001.10:g.227081695_227081698delinsTCTC , CM000663.1:g.227081695_227081698delinsTCTC	GRCh37
NC_000001.9:g.225148318_225148321delinsTCTC	NCBI36
NG_007381.1:g.28423_28426delinsTCTC
NG_012825.2:g.1459_1462delinsTCTC
NG_007381.2:g.28811_28814delinsTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1073-13_1073-10delinsTCTC	ENSP00000355741.2:n.1073-13_1073-10delinsTCTC
ENST00000366782.6:c.1073-13_1073-10delinsTCTC	ENSP00000355746.2:n.1073-13_1073-10delinsTCTC
ENST00000366783.8:c.1073-13_1073-10delinsTCTC MANE Select	ENSP00000355747.3:n.1073-13_1073-10delinsTCTC
ENST00000471728.2:n.1711-13_1711-10delinsTCTC
ENST00000524196.6:c.1073-13_1073-10delinsTCTC	ENSP00000429036.2:n.1073-13_1073-10delinsTCTC
ENST00000626989.3:c.1073-13_1073-10delinsTCTC	ENSP00000486498.2:n.1073-13_1073-10delinsTCTC
ENST00000676467.1:c.*900-13_*900-10delinsTCTC	ENSP00000504294.1:n.*900-13_*900-10delinsTCTC
ENST00000676747.1:c.1070-13_1070-10delinsTCTC	ENSP00000503244.1:n.1070-13_1070-10delinsTCTC
ENST00000676884.1:c.1073-13_1073-10delinsTCTC	ENSP00000503200.1:n.1073-13_1073-10delinsTCTC
ENST00000676888.1:c.*414-13_*414-10delinsTCTC	ENSP00000504483.1:n.*414-13_*414-10delinsTCTC
ENST00000676907.1:c.*652-13_*652-10delinsTCTC	ENSP00000504410.1:n.*652-13_*652-10delinsTCTC
ENST00000676945.1:c.1073-13_1073-10delinsTCTC	ENSP00000504433.1:n.1073-13_1073-10delinsTCTC
ENST00000677065.1:n.1634-13_1634-10delinsTCTC
ENST00000677414.1:c.1073-13_1073-10delinsTCTC	ENSP00000503116.1:n.1073-13_1073-10delinsTCTC
ENST00000677529.1:n.2803-13_2803-10delinsTCTC
ENST00000677596.1:c.*1295-13_*1295-10delinsTCTC	ENSP00000503618.1:n.*1295-13_*1295-10delinsTCTC
ENST00000677599.1:c.1073-13_1073-10delinsTCTC	ENSP00000503673.1:n.1073-13_1073-10delinsTCTC
ENST00000677748.1:n.3328-13_3328-10delinsTCTC
ENST00000677880.1:c.638-13_638-10delinsTCTC	ENSP00000503121.1:n.638-13_638-10delinsTCTC
ENST00000678021.1:c.*696-13_*696-10delinsTCTC	ENSP00000504674.1:n.*696-13_*696-10delinsTCTC
ENST00000678233.1:c.1073-13_1073-10delinsTCTC	ENSP00000504728.1:n.1073-13_1073-10delinsTCTC
ENST00000678320.1:c.974-13_974-10delinsTCTC	ENSP00000503680.1:n.974-13_974-10delinsTCTC
ENST00000678655.1:c.974-13_974-10delinsTCTC	ENSP00000504230.1:n.974-13_974-10delinsTCTC
ENST00000678706.1:c.*450-13_*450-10delinsTCTC	ENSP00000503659.1:n.*450-13_*450-10delinsTCTC
ENST00000678776.1:c.*1210-13_*1210-10delinsTCTC	ENSP00000504624.1:n.*1210-13_*1210-10delinsTCTC
ENST00000678784.1:c.1072+2150_1072+2153delinsTCTC	ENSP00000504652.1:n.1072+2150_1072+2153delinsTCTC
ENST00000678820.1:c.971-13_971-10delinsTCTC	ENSP00000504138.1:n.971-13_971-10delinsTCTC
ENST00000678835.1:c.*756+2150_*756+2153delinsTCTC	ENSP00000504343.1:n.*756+2150_*756+2153delinsTCTC
ENST00000679088.1:c.1073-13_1073-10delinsTCTC	ENSP00000504727.1:n.1073-13_1073-10delinsTCTC
ENST00000679098.1:c.1073-13_1073-10delinsTCTC	ENSP00000504303.1:n.1073-13_1073-10delinsTCTC
ENST00000366782.5:c.1172-13_1172-10delinsTCTC	ENSP00000355746.1:n.1172-13_1172-10delinsTCTC
ENST00000366783.7:c.1073-13_1073-10delinsTCTC	ENSP00000355747.3:n.1073-13_1073-10delinsTCTC
ENST00000422240.6:c.1070-13_1070-10delinsTCTC	ENSP00000403737.2:n.1070-13_1070-10delinsTCTC
ENST00000471728.1:n.331-13_331-10delinsTCTC
ENST00000472139.2:c.641-13_641-10delinsTCTC	ENSP00000427806.1:n.641-13_641-10delinsTCTC
ENST00000626989.2:c.1172-13_1172-10delinsTCTC	ENSP00000486498.1:n.1172-13_1172-10delinsTCTC
NM_000447.2:c.1073-13_1073-10delinsTCTC	NP_000438.2:n.1073-13_1073-10delinsTCTC
NM_012486.2:c.1070-13_1070-10delinsTCTC	NP_036618.2:n.1070-13_1070-10delinsTCTC
XM_005273199.2:c.1073-13_1073-10delinsTCTC	XP_005273256.1:n.1073-13_1073-10delinsTCTC
XM_011544236.1:c.641-13_641-10delinsTCTC	XP_011542538.1:n.641-13_641-10delinsTCTC
XR_949149.1:n.1807-13_1807-10delinsTCTC
XM_005273199.4:c.1073-13_1073-10delinsTCTC	XP_005273256.1:n.1073-13_1073-10delinsTCTC
XM_017001835.1:c.1073-13_1073-10delinsTCTC	XP_016857324.1:n.1073-13_1073-10delinsTCTC
XM_017001836.1:c.1070-13_1070-10delinsTCTC	XP_016857325.1:n.1070-13_1070-10delinsTCTC
XR_001737316.2:n.1477+2150_1477+2153delinsTCTC
XR_001737317.2:n.1477+2150_1477+2153delinsTCTC
XR_001737318.2:n.1788-13_1788-10delinsTCTC
XR_001737319.1:n.2131-13_2131-10delinsTCTC
XR_001737320.1:n.2128-13_2128-10delinsTCTC
XR_001737321.1:n.1623-13_1623-10delinsTCTC
XR_949149.2:n.1785-13_1785-10delinsTCTC
XR_949150.3:n.2004-13_2004-10delinsTCTC
NM_000447.3:c.1073-13_1073-10delinsTCTC MANE Select	NP_000438.2:n.1073-13_1073-10delinsTCTC
NM_012486.3:c.1070-13_1070-10delinsTCTC	NP_036618.2:n.1070-13_1070-10delinsTCTC