Canonical Allele Identifier: CA2747990064
Gene: PSEN2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226888959_226888960insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG , CM000663.2:g.226888959_226888960insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG GRCh38
NC_000001.10:g.227076660_227076661insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG , CM000663.1:g.227076660_227076661insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG GRCh37
NC_000001.9:g.225143283_225143284insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG NCBI36
NG_007381.1:g.23388_23389insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG
NG_007381.2:g.23776_23777insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000366779.6:c.697_698insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG ENSP00000355741.2:p.Ile233SerfsTer13
ENST00000366782.6:c.697_698insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG ENSP00000355746.2:p.Ile233SerfsTer13
ENST00000366783.8:c.697_698insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG MANE Select ENSP00000355747.3:p.Ile233SerfsTer13
ENST00000524196.6:c.697_698insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG ENSP00000429036.2:p.Ile233SerfsTer13
ENST00000626989.3:c.697_698insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG ENSP00000486498.2:p.Ile233SerfsTer13
ENST00000676467.1:c.*527_*528insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG ENSP00000504294.1:n.*527_*528insGTAAAGAGGGCCAGGTTGGGACTGAATGG...
ENST00000676747.1:c.697_698insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG ENSP00000503244.1:p.Ile233SerfsTer13
ENST00000676840.1:c.697_698insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG ENSP00000504318.1:p.Ile233SerfsTer13
ENST00000676884.1:c.697_698insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG ENSP00000503200.1:p.Ile233SerfsTer13
ENST00000676888.1:c.697_698insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG ENSP00000504483.1:p.Ile233SerfsTer13
ENST00000676907.1:c.*276_*277insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG ENSP00000504410.1:n.*276_*277insGTAAAGAGGGCCAGGTTGGGACTGAATGG...
ENST00000676945.1:c.697_698insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG ENSP00000504433.1:p.Ile233SerfsTer13
ENST00000677065.1:n.1258_1259insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG
ENST00000677414.1:c.697_698insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG ENSP00000503116.1:p.Ile233SerfsTer13
ENST00000677529.1:n.1135_1136insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG
ENST00000677596.1:c.*604_*605insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG ENSP00000503618.1:n.*604_*605insGTAAAGAGGGCCAGGTTGGGACTGAATGG...
ENST00000677599.1:c.697_698insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG ENSP00000503673.1:p.Ile233SerfsTer13
ENST00000677748.1:n.1135_1136insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG
ENST00000677880.1:c.265_266insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG ENSP00000503121.1:p.Ile89SerfsTer13
ENST00000678021.1:c.*320_*321insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG ENSP00000504674.1:n.*320_*321insGTAAAGAGGGCCAGGTTGGGACTGAATGG...
ENST00000678233.1:c.697_698insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG ENSP00000504728.1:p.Ile233SerfsTer13
ENST00000678320.1:c.697_698insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG ENSP00000503680.1:p.Ile233SerfsTer13
ENST00000678655.1:c.697_698insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG ENSP00000504230.1:p.Ile233SerfsTer13
ENST00000678706.1:c.697_698insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG ENSP00000503659.1:p.Ile233SerfsTer13
ENST00000678776.1:c.*527_*528insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG ENSP00000504624.1:n.*527_*528insGTAAAGAGGGCCAGGTTGGGACTGAATGG...
ENST00000678784.1:c.697_698insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG ENSP00000504652.1:p.Ile233SerfsTer13
ENST00000678820.1:c.697_698insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG ENSP00000504138.1:p.Ile233SerfsTer13
ENST00000678835.1:c.697_698insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG ENSP00000504343.1:p.Ile233SerfsTer13
ENST00000679088.1:c.697_698insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG ENSP00000504727.1:p.Ile233SerfsTer13
ENST00000679098.1:c.697_698insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG ENSP00000504303.1:p.Ile233SerfsTer13
ENST00000366782.5:c.796_797insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG ENSP00000355746.1:p.Ile266SerfsTer13
ENST00000366783.7:c.697_698insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG ENSP00000355747.3:p.Ile233SerfsTer13
ENST00000422240.6:c.697_698insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG ENSP00000403737.2:p.Ile233SerfsTer13
ENST00000460775.5:c.178_179insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG ENSP00000427912.1:p.Ile60SerfsTer13
ENST00000472139.2:c.265_266insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG ENSP00000427806.1:p.Ile89SerfsTer13
ENST00000626989.2:c.796_797insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG ENSP00000486498.1:p.Ile266SerfsTer13
NM_000447.2:c.697_698insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG NP_000438.2:p.Ile233SerfsTer13
NM_012486.2:c.697_698insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG NP_036618.2:p.Ile233SerfsTer13
XM_005273199.2:c.697_698insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG XP_005273256.1:p.Ile233SerfsTer13
XM_011544236.1:c.265_266insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG XP_011542538.1:p.Ile89SerfsTer13
XR_949149.1:n.1124_1125insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG
XR_949150.1:n.1124_1125insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG
XM_005273199.4:c.697_698insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG XP_005273256.1:p.Ile233SerfsTer13
XM_017001835.1:c.697_698insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG XP_016857324.1:p.Ile233SerfsTer13
XM_017001836.1:c.697_698insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG XP_016857325.1:p.Ile233SerfsTer13
XR_001737316.2:n.1102_1103insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG
XR_001737317.2:n.1102_1103insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG
XR_001737318.2:n.1102_1103insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG
XR_001737319.1:n.1445_1446insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG
XR_001737320.1:n.1445_1446insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG
XR_001737321.1:n.937_938insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG
XR_949149.2:n.1102_1103insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG
XR_949150.3:n.1102_1103insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG
NM_000447.3:c.697_698insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG MANE Select NP_000438.2:p.Ile233SerfsTer13
NM_012486.3:c.697_698insGTAAAGAGGGCCAGGTTGGGACTGAATGGTGG NP_036618.2:p.Ile233SerfsTer13
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