Canonical Allele Identifier: CA1225080372

Gene: PSEN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226885439_226885440delinsTC , CM000663.2:g.226885439_226885440delinsTC	GRCh38
NC_000001.10:g.227073140_227073141delinsTC , CM000663.1:g.227073140_227073141delinsTC	GRCh37
NC_000001.9:g.225139763_225139764delinsTC	NCBI36
NG_007381.1:g.19868_19869delinsTC
NG_007381.2:g.20256_20257delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.357-99_357-98delinsTC	ENSP00000355741.2:n.357-99_357-98delinsTC
ENST00000366782.6:c.357-99_357-98delinsTC	ENSP00000355746.2:n.357-99_357-98delinsTC
ENST00000366783.8:c.357-99_357-98delinsTC MANE Select	ENSP00000355747.3:n.357-99_357-98delinsTC
ENST00000524196.6:c.357-99_357-98delinsTC	ENSP00000429036.2:n.357-99_357-98delinsTC
ENST00000626989.3:c.357-99_357-98delinsTC	ENSP00000486498.2:n.357-99_357-98delinsTC
ENST00000676467.1:c.*187-99_*187-98delinsTC	ENSP00000504294.1:n.*187-99_*187-98delinsTC
ENST00000676747.1:c.357-99_357-98delinsTC	ENSP00000503244.1:n.357-99_357-98delinsTC
ENST00000676840.1:c.357-99_357-98delinsTC	ENSP00000504318.1:n.357-99_357-98delinsTC
ENST00000676884.1:c.357-99_357-98delinsTC	ENSP00000503200.1:n.357-99_357-98delinsTC
ENST00000676888.1:c.357-99_357-98delinsTC	ENSP00000504483.1:n.357-99_357-98delinsTC
ENST00000676907.1:c.357-22_357-21delinsTC	ENSP00000504410.1:n.357-22_357-21delinsTC
ENST00000676945.1:c.357-99_357-98delinsTC	ENSP00000504433.1:n.357-99_357-98delinsTC
ENST00000677065.1:n.918-99_918-98delinsTC
ENST00000677414.1:c.357-99_357-98delinsTC	ENSP00000503116.1:n.357-99_357-98delinsTC
ENST00000677529.1:n.795-99_795-98delinsTC
ENST00000677596.1:c.*187-22_*187-21delinsTC	ENSP00000503618.1:n.*187-22_*187-21delinsTC
ENST00000677599.1:c.357-99_357-98delinsTC	ENSP00000503673.1:n.357-99_357-98delinsTC
ENST00000677748.1:n.795-99_795-98delinsTC
ENST00000677880.1:c.-153-22_-153-21delinsTC	ENSP00000503121.1:n.-153-22_-153-21delinsTC
ENST00000678021.1:c.142-99_142-98delinsTC	ENSP00000504674.1:n.142-99_142-98delinsTC
ENST00000678233.1:c.357-99_357-98delinsTC	ENSP00000504728.1:n.357-99_357-98delinsTC
ENST00000678320.1:c.357-99_357-98delinsTC	ENSP00000503680.1:n.357-99_357-98delinsTC
ENST00000678655.1:c.357-99_357-98delinsTC	ENSP00000504230.1:n.357-99_357-98delinsTC
ENST00000678706.1:c.357-99_357-98delinsTC	ENSP00000503659.1:n.357-99_357-98delinsTC
ENST00000678776.1:c.*187-99_*187-98delinsTC	ENSP00000504624.1:n.*187-99_*187-98delinsTC
ENST00000678784.1:c.357-99_357-98delinsTC	ENSP00000504652.1:n.357-99_357-98delinsTC
ENST00000678820.1:c.357-99_357-98delinsTC	ENSP00000504138.1:n.357-99_357-98delinsTC
ENST00000678835.1:c.357-99_357-98delinsTC	ENSP00000504343.1:n.357-99_357-98delinsTC
ENST00000679088.1:c.357-99_357-98delinsTC	ENSP00000504727.1:n.357-99_357-98delinsTC
ENST00000679098.1:c.357-99_357-98delinsTC	ENSP00000504303.1:n.357-99_357-98delinsTC
ENST00000366782.5:c.456-99_456-98delinsTC	ENSP00000355746.1:n.456-99_456-98delinsTC
ENST00000366783.7:c.357-99_357-98delinsTC	ENSP00000355747.3:n.357-99_357-98delinsTC
ENST00000422240.6:c.357-99_357-98delinsTC	ENSP00000403737.2:n.357-99_357-98delinsTC
ENST00000460775.5:c.-21-2652_-21-2651delinsTC	ENSP00000427912.1:n.-21-2652_-21-2651delinsTC
ENST00000472139.2:c.-76-99_-76-98delinsTC	ENSP00000427806.1:n.-76-99_-76-98delinsTC
ENST00000495488.5:c.357-99_357-98delinsTC	ENSP00000429682.1:n.357-99_357-98delinsTC
ENST00000626989.2:c.456-99_456-98delinsTC	ENSP00000486498.1:n.456-99_456-98delinsTC
NM_000447.2:c.357-99_357-98delinsTC	NP_000438.2:n.357-99_357-98delinsTC
NM_012486.2:c.357-99_357-98delinsTC	NP_036618.2:n.357-99_357-98delinsTC
XM_005273199.2:c.357-99_357-98delinsTC	XP_005273256.1:n.357-99_357-98delinsTC
XM_011544236.1:c.-76-99_-76-98delinsTC	XP_011542538.1:n.-76-99_-76-98delinsTC
XR_949149.1:n.784-99_784-98delinsTC
XR_949150.1:n.784-99_784-98delinsTC
XM_005273199.4:c.357-99_357-98delinsTC	XP_005273256.1:n.357-99_357-98delinsTC
XM_017001835.1:c.357-99_357-98delinsTC	XP_016857324.1:n.357-99_357-98delinsTC
XM_017001836.1:c.357-99_357-98delinsTC	XP_016857325.1:n.357-99_357-98delinsTC
XR_001737316.2:n.762-99_762-98delinsTC
XR_001737317.2:n.762-99_762-98delinsTC
XR_001737318.2:n.762-99_762-98delinsTC
XR_001737319.1:n.1105-99_1105-98delinsTC
XR_001737320.1:n.1105-99_1105-98delinsTC
XR_001737321.1:n.597-99_597-98delinsTC
XR_949149.2:n.762-99_762-98delinsTC
XR_949150.3:n.762-99_762-98delinsTC
NM_000447.3:c.357-99_357-98delinsTC MANE Select	NP_000438.2:n.357-99_357-98delinsTC
NM_012486.3:c.357-99_357-98delinsTC	NP_036618.2:n.357-99_357-98delinsTC