Canonical Allele Identifier: CA1225085267
Gene: PSEN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226895440T= , CM000663.2:g.226895440T= GRCh38
NC_000001.10:g.227083141T= , CM000663.1:g.227083141T= GRCh37
NC_000001.9:g.225149764T= NCBI36
NG_007381.1:g.29869T=
NG_012825.2:g.2905T=
NG_007381.2:g.30257T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366779.6:c.1208T= ENSP00000355741.2:p.Leu403=
ENST00000366782.6:c.1208T= ENSP00000355746.2:p.Leu403=
ENST00000366783.8:c.1208T= MANE Select ENSP00000355747.3:p.Leu403=
ENST00000471728.2:n.1846T=
ENST00000524196.6:c.1208T= ENSP00000429036.2:p.Leu403=
ENST00000626989.3:c.1208T= ENSP00000486498.2:p.Leu403=
ENST00000676467.1:c.*1035T= ENSP00000504294.1:n.*1035T=
ENST00000676747.1:c.1188+1315T= ENSP00000503244.1:n.1188+1315T=
ENST00000676884.1:c.1208T= ENSP00000503200.1:p.Leu403=
ENST00000676888.1:c.*549T= ENSP00000504483.1:n.*549T=
ENST00000676907.1:c.*787T= ENSP00000504410.1:n.*787T=
ENST00000676945.1:c.1191+1315T= ENSP00000504433.1:n.1191+1315T=
ENST00000677065.1:n.1769T=
ENST00000677414.1:c.1208T= ENSP00000503116.1:p.Leu403=
ENST00000677529.1:n.2938T=
ENST00000677596.1:c.*1430T= ENSP00000503618.1:n.*1430T=
ENST00000677599.1:c.1191+1315T= ENSP00000503673.1:n.1191+1315T=
ENST00000677748.1:n.3463T=
ENST00000677880.1:c.773T= ENSP00000503121.1:p.Leu258=
ENST00000678021.1:c.*831T= ENSP00000504674.1:n.*831T=
ENST00000678233.1:c.1208T= ENSP00000504728.1:p.Leu403=
ENST00000678320.1:c.1109T= ENSP00000503680.1:p.Leu370=
ENST00000678655.1:c.1092+1315T= ENSP00000504230.1:n.1092+1315T=
ENST00000678706.1:c.*585T= ENSP00000503659.1:n.*585T=
ENST00000678776.1:c.*1345T= ENSP00000504624.1:n.*1345T=
ENST00000678784.1:c.1073-2280T= ENSP00000504652.1:n.1073-2280T=
ENST00000678820.1:c.1089+1315T= ENSP00000504138.1:n.1089+1315T=
ENST00000678835.1:c.*757-2280T= ENSP00000504343.1:n.*757-2280T=
ENST00000679088.1:c.1208T= ENSP00000504727.1:p.Leu403=
ENST00000679098.1:c.1208T= ENSP00000504303.1:p.Leu403=
ENST00000366782.5:c.1307T= ENSP00000355746.1:p.Leu436=
ENST00000366783.7:c.1208T= ENSP00000355747.3:p.Leu403=
ENST00000422240.6:c.1205T= ENSP00000403737.2:p.Leu402=
ENST00000471728.1:n.466T=
ENST00000472139.2:c.776T= ENSP00000427806.1:p.Leu259=
ENST00000626989.2:c.1307T= ENSP00000486498.1:p.Leu436=
NM_000447.2:c.1208T= NP_000438.2:p.Leu403=
NM_012486.2:c.1205T= NP_036618.2:p.Leu402=
XM_005273199.2:c.1208T= XP_005273256.1:p.Leu403=
XM_011544236.1:c.776T= XP_011542538.1:p.Leu259=
XR_949149.1:n.1942T=
XM_005273199.4:c.1208T= XP_005273256.1:p.Leu403=
XM_017001835.1:c.1208T= XP_016857324.1:p.Leu403=
XM_017001836.1:c.1205T= XP_016857325.1:p.Leu402=
XR_001737316.2:n.1478-2280T=
XR_001737317.2:n.1478-2280T=
XR_001737318.2:n.1923T=
XR_001737319.1:n.2266T=
XR_001737320.1:n.2263T=
XR_001737321.1:n.1758T=
XR_949149.2:n.1920T=
XR_949150.3:n.2139T=
NM_000447.3:c.1208T= MANE Select NP_000438.2:p.Leu403=
NM_012486.3:c.1205T= NP_036618.2:p.Leu402=