Canonical Allele Identifier: CA1225080360

Gene: PSEN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226885411_226885413delinsTCA , CM000663.2:g.226885411_226885413delinsTCA	GRCh38
NC_000001.10:g.227073112_227073114delinsTCA , CM000663.1:g.227073112_227073114delinsTCA	GRCh37
NC_000001.9:g.225139735_225139737delinsTCA	NCBI36
NG_007381.1:g.19840_19842delinsTCA
NG_007381.2:g.20228_20230delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
NM_000447.3:c.357-127_357-125delinsTCA MANE Select	NP_000438.2:n.357-127_357-125delinsTCA
ENST00000366783.8:c.357-127_357-125delinsTCA MANE Select	ENSP00000355747.3:n.357-127_357-125delinsTCA
NM_000447.2:c.357-127_357-125delinsTCA	NP_000438.2:n.357-127_357-125delinsTCA
NM_012486.2:c.357-127_357-125delinsTCA	NP_036618.2:n.357-127_357-125delinsTCA
NM_012486.3:c.357-127_357-125delinsTCA	NP_036618.2:n.357-127_357-125delinsTCA
ENST00000366779.6:c.357-127_357-125delinsTCA	ENSP00000355741.2:n.357-127_357-125delinsTCA
ENST00000366782.5:c.456-127_456-125delinsTCA	ENSP00000355746.1:n.456-127_456-125delinsTCA
ENST00000366782.6:c.357-127_357-125delinsTCA	ENSP00000355746.2:n.357-127_357-125delinsTCA
ENST00000366783.7:c.357-127_357-125delinsTCA	ENSP00000355747.3:n.357-127_357-125delinsTCA
ENST00000422240.6:c.357-127_357-125delinsTCA	ENSP00000403737.2:n.357-127_357-125delinsTCA
ENST00000460775.5:c.-21-2680_-21-2678delinsTCA	ENSP00000427912.1:n.-21-2680_-21-2678delinsTCA
ENST00000472139.2:c.-76-127_-76-125delinsTCA	ENSP00000427806.1:n.-76-127_-76-125delinsTCA
ENST00000495488.5:c.357-127_357-125delinsTCA	ENSP00000429682.1:n.357-127_357-125delinsTCA
ENST00000524196.6:c.357-127_357-125delinsTCA	ENSP00000429036.2:n.357-127_357-125delinsTCA
ENST00000626989.2:c.456-127_456-125delinsTCA	ENSP00000486498.1:n.456-127_456-125delinsTCA
ENST00000626989.3:c.357-127_357-125delinsTCA	ENSP00000486498.2:n.357-127_357-125delinsTCA
ENST00000676467.1:c.*187-127_*187-125delinsTCA	ENSP00000504294.1:n.*187-127_*187-125delinsTCA
ENST00000676747.1:c.357-127_357-125delinsTCA	ENSP00000503244.1:n.357-127_357-125delinsTCA
ENST00000676840.1:c.357-127_357-125delinsTCA	ENSP00000504318.1:n.357-127_357-125delinsTCA
ENST00000676884.1:c.357-127_357-125delinsTCA	ENSP00000503200.1:n.357-127_357-125delinsTCA
ENST00000676888.1:c.357-127_357-125delinsTCA	ENSP00000504483.1:n.357-127_357-125delinsTCA
ENST00000676907.1:c.357-50_357-48delinsTCA	ENSP00000504410.1:n.357-50_357-48delinsTCA
ENST00000676945.1:c.357-127_357-125delinsTCA	ENSP00000504433.1:n.357-127_357-125delinsTCA
ENST00000677065.1:n.918-127_918-125delinsTCA
ENST00000677414.1:c.357-127_357-125delinsTCA	ENSP00000503116.1:n.357-127_357-125delinsTCA
ENST00000677529.1:n.795-127_795-125delinsTCA
ENST00000677596.1:c.*187-50_*187-48delinsTCA	ENSP00000503618.1:n.*187-50_*187-48delinsTCA
ENST00000677599.1:c.357-127_357-125delinsTCA	ENSP00000503673.1:n.357-127_357-125delinsTCA
ENST00000677748.1:n.795-127_795-125delinsTCA
ENST00000677880.1:c.-153-50_-153-48delinsTCA	ENSP00000503121.1:n.-153-50_-153-48delinsTCA
ENST00000678021.1:c.142-127_142-125delinsTCA	ENSP00000504674.1:n.142-127_142-125delinsTCA
ENST00000678233.1:c.357-127_357-125delinsTCA	ENSP00000504728.1:n.357-127_357-125delinsTCA
ENST00000678320.1:c.357-127_357-125delinsTCA	ENSP00000503680.1:n.357-127_357-125delinsTCA
ENST00000678655.1:c.357-127_357-125delinsTCA	ENSP00000504230.1:n.357-127_357-125delinsTCA
ENST00000678706.1:c.357-127_357-125delinsTCA	ENSP00000503659.1:n.357-127_357-125delinsTCA
ENST00000678776.1:c.*187-127_*187-125delinsTCA	ENSP00000504624.1:n.*187-127_*187-125delinsTCA
ENST00000678784.1:c.357-127_357-125delinsTCA	ENSP00000504652.1:n.357-127_357-125delinsTCA
ENST00000678820.1:c.357-127_357-125delinsTCA	ENSP00000504138.1:n.357-127_357-125delinsTCA
ENST00000678835.1:c.357-127_357-125delinsTCA	ENSP00000504343.1:n.357-127_357-125delinsTCA
ENST00000679088.1:c.357-127_357-125delinsTCA	ENSP00000504727.1:n.357-127_357-125delinsTCA
ENST00000679098.1:c.357-127_357-125delinsTCA	ENSP00000504303.1:n.357-127_357-125delinsTCA
XM_005273199.2:c.357-127_357-125delinsTCA	XP_005273256.1:n.357-127_357-125delinsTCA
XM_005273199.4:c.357-127_357-125delinsTCA	XP_005273256.1:n.357-127_357-125delinsTCA
XM_011544236.1:c.-76-127_-76-125delinsTCA	XP_011542538.1:n.-76-127_-76-125delinsTCA
XM_017001835.1:c.357-127_357-125delinsTCA	XP_016857324.1:n.357-127_357-125delinsTCA
XM_017001836.1:c.357-127_357-125delinsTCA	XP_016857325.1:n.357-127_357-125delinsTCA
XR_001737316.2:n.762-127_762-125delinsTCA
XR_001737317.2:n.762-127_762-125delinsTCA
XR_001737318.2:n.762-127_762-125delinsTCA
XR_001737319.1:n.1105-127_1105-125delinsTCA
XR_001737320.1:n.1105-127_1105-125delinsTCA
XR_001737321.1:n.597-127_597-125delinsTCA
XR_949149.1:n.784-127_784-125delinsTCA
XR_949149.2:n.762-127_762-125delinsTCA
XR_949150.1:n.784-127_784-125delinsTCA
XR_949150.3:n.762-127_762-125delinsTCA