Canonical Allele Identifier: CA732355022

Gene: PSEN2

Linked Data

• dbSNP Id: rs1226878630
• MyVariant Identifiers: chr1:g.227081757_227081758insGGCAA (hg19) ; chr1:g.226894056_226894057insGGCAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894060_226894064dup , CM000663.2:g.226894060_226894064dup	GRCh38
NC_000001.10:g.227081761_227081765dup , CM000663.1:g.227081761_227081765dup	GRCh37
NC_000001.9:g.225148384_225148388dup	NCBI36
NG_007381.1:g.28489_28493dup
NG_012825.2:g.1525_1529dup
NG_007381.2:g.28877_28881dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1126_1130dup	ENSP00000355741.2:p.Ala378ArgfsTer26
ENST00000366782.6:c.1126_1130dup	ENSP00000355746.2:p.Ala378ArgfsTer26
ENST00000366783.8:c.1126_1130dup MANE Select	ENSP00000355747.3:p.Ala378ArgfsTer26
ENST00000471728.2:n.1764_1768dup
ENST00000524196.6:c.1126_1130dup	ENSP00000429036.2:p.Ala378ArgfsTer26
ENST00000626989.3:c.1126_1130dup	ENSP00000486498.2:p.Ala378ArgfsTer26
ENST00000676467.1:c.*953_*957dup	ENSP00000504294.1:n.*953_*957dup
ENST00000676747.1:c.1123_1127dup	ENSP00000503244.1:p.Ala377ArgfsTer?
ENST00000676884.1:c.1126_1130dup	ENSP00000503200.1:p.Ala378ArgfsTer26
ENST00000676888.1:c.*467_*471dup	ENSP00000504483.1:n.*467_*471dup
ENST00000676907.1:c.*705_*709dup	ENSP00000504410.1:n.*705_*709dup
ENST00000676945.1:c.1126_1130dup	ENSP00000504433.1:p.Ala378ArgfsTer?
ENST00000677065.1:n.1687_1691dup
ENST00000677414.1:c.1126_1130dup	ENSP00000503116.1:p.Ala378ArgfsTer26
ENST00000677529.1:n.2856_2860dup
ENST00000677596.1:c.*1348_*1352dup	ENSP00000503618.1:n.*1348_*1352dup
ENST00000677599.1:c.1126_1130dup	ENSP00000503673.1:p.Ala378ArgfsTer?
ENST00000677748.1:n.3381_3385dup
ENST00000677880.1:c.691_695dup	ENSP00000503121.1:p.Ala233ArgfsTer26
ENST00000678021.1:c.*749_*753dup	ENSP00000504674.1:n.*749_*753dup
ENST00000678233.1:c.1126_1130dup	ENSP00000504728.1:p.Ala378ArgfsTer26
ENST00000678320.1:c.1027_1031dup	ENSP00000503680.1:p.Ala345ArgfsTer26
ENST00000678655.1:c.1027_1031dup	ENSP00000504230.1:p.Ala345ArgfsTer?
ENST00000678706.1:c.*503_*507dup	ENSP00000503659.1:n.*503_*507dup
ENST00000678776.1:c.*1263_*1267dup	ENSP00000504624.1:n.*1263_*1267dup
ENST00000678784.1:c.1072+2216_1072+2220dup	ENSP00000504652.1:n.1072+2216_1072+2220dup
ENST00000678820.1:c.1024_1028dup	ENSP00000504138.1:p.Ala344ArgfsTer?
ENST00000678835.1:c.*756+2216_*756+2220dup	ENSP00000504343.1:n.*756+2216_*756+2220dup
ENST00000679088.1:c.1126_1130dup	ENSP00000504727.1:p.Ala378ArgfsTer26
ENST00000679098.1:c.1126_1130dup	ENSP00000504303.1:p.Ala378ArgfsTer26
ENST00000366782.5:c.1225_1229dup	ENSP00000355746.1:p.Ala411ArgfsTer26
ENST00000366783.7:c.1126_1130dup	ENSP00000355747.3:p.Ala378ArgfsTer26
ENST00000422240.6:c.1123_1127dup	ENSP00000403737.2:p.Ala377ArgfsTer26
ENST00000471728.1:n.384_388dup
ENST00000472139.2:c.694_698dup	ENSP00000427806.1:p.Ala234ArgfsTer26
ENST00000626989.2:c.1225_1229dup	ENSP00000486498.1:p.Ala411ArgfsTer26
NM_000447.2:c.1126_1130dup	NP_000438.2:p.Ala378ArgfsTer26
NM_012486.2:c.1123_1127dup	NP_036618.2:p.Ala377ArgfsTer26
XM_005273199.2:c.1126_1130dup	XP_005273256.1:p.Ala378ArgfsTer26
XM_011544236.1:c.694_698dup	XP_011542538.1:p.Ala234ArgfsTer26
XR_949149.1:n.1860_1864dup
XM_005273199.4:c.1126_1130dup	XP_005273256.1:p.Ala378ArgfsTer26
XM_017001835.1:c.1126_1130dup	XP_016857324.1:p.Ala378ArgfsTer26
XM_017001836.1:c.1123_1127dup	XP_016857325.1:p.Ala377ArgfsTer26
XR_001737316.2:n.1477+2216_1477+2220dup
XR_001737317.2:n.1477+2216_1477+2220dup
XR_001737318.2:n.1841_1845dup
XR_001737319.1:n.2184_2188dup
XR_001737320.1:n.2181_2185dup
XR_001737321.1:n.1676_1680dup
XR_949149.2:n.1838_1842dup
XR_949150.3:n.2057_2061dup
NM_000447.3:c.1126_1130dup MANE Select	NP_000438.2:p.Ala378ArgfsTer26
NM_012486.3:c.1123_1127dup	NP_036618.2:p.Ala377ArgfsTer26