Canonical Allele Identifier: CA2650788014
Gene: PSEN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226894129_226894186del , CM000663.2:g.226894129_226894186del GRCh38
NC_000001.10:g.227081830_227081887del , CM000663.1:g.227081830_227081887del GRCh37
NC_000001.9:g.225148453_225148510del NCBI36
NG_007381.1:g.28558_28615del
NG_012825.2:g.1594_1651del
NG_007381.2:g.28946_29003del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366779.6:c.1191+4_1191+61del
ENST00000366782.6:c.1191+4_1191+61del
ENST00000366783.8:c.1191+4_1191+61del
ENST00000471728.2:n.1829+4_1829+61del
ENST00000524196.6:c.1191+4_1191+61del
ENST00000626989.3:c.1191+4_1191+61del
ENST00000676467.1:c.*1018+4_*1018+61del
ENST00000676747.1:c.1188+4_1188+61del
ENST00000676884.1:c.1191+4_1191+61del
ENST00000676888.1:c.*532+4_*532+61del
ENST00000676907.1:c.*770+4_*770+61del
ENST00000676945.1:c.1191+4_1191+61del
ENST00000677065.1:n.1752+4_1752+61del
ENST00000677414.1:c.1191+4_1191+61del
ENST00000677529.1:n.2921+4_2921+61del
ENST00000677596.1:c.*1413+4_*1413+61del
ENST00000677599.1:c.1191+4_1191+61del
ENST00000677748.1:n.3446+4_3446+61del
ENST00000677880.1:c.756+4_756+61del
ENST00000678021.1:c.*814+4_*814+61del
ENST00000678233.1:c.1191+4_1191+61del
ENST00000678320.1:c.1092+4_1092+61del
ENST00000678655.1:c.1092+4_1092+61del
ENST00000678706.1:c.*568+4_*568+61del
ENST00000678776.1:c.*1328+4_*1328+61del
ENST00000678784.1:c.1072+2285_1072+2342del ENSP00000504652.1:n.1072+2285_1072+2342del
ENST00000678820.1:c.1089+4_1089+61del
ENST00000678835.1:c.*756+2285_*756+2342del ENSP00000504343.1:n.*756+2285_*756+2342del
ENST00000679088.1:c.1191+4_1191+61del
ENST00000679098.1:c.1191+4_1191+61del
ENST00000366782.5:c.1290+4_1290+61del
ENST00000366783.7:c.1191+4_1191+61del
ENST00000422240.6:c.1188+4_1188+61del
ENST00000471728.1:n.449+4_449+61del
ENST00000472139.2:c.759+4_759+61del
ENST00000626989.2:c.1290+4_1290+61del
NM_000447.2:c.1191+4_1191+61del
NM_012486.2:c.1188+4_1188+61del
XM_005273199.2:c.1191+4_1191+61del
XM_011544236.1:c.759+4_759+61del
XR_949149.1:n.1925+4_1925+61del
XM_005273199.4:c.1191+4_1191+61del
XM_017001835.1:c.1191+4_1191+61del
XM_017001836.1:c.1188+4_1188+61del
XR_001737316.2:n.1477+2285_1477+2342del
XR_001737317.2:n.1477+2285_1477+2342del
XR_001737318.2:n.1906+4_1906+61del
XR_001737319.1:n.2249+4_2249+61del
XR_001737320.1:n.2246+4_2246+61del
XR_001737321.1:n.1741+4_1741+61del
XR_949149.2:n.1903+4_1903+61del
XR_949150.3:n.2122+4_2122+61del
NM_000447.3:c.1191+4_1191+61del
NM_012486.3:c.1188+4_1188+61del