Canonical Allele Identifier: CA2747990006

Gene: PSEN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226885737_226885738insTGGAG , CM000663.2:g.226885737_226885738insTGGAG	GRCh38
NC_000001.10:g.227073438_227073439insTGGAG , CM000663.1:g.227073438_227073439insTGGAG	GRCh37
NC_000001.9:g.225140061_225140062insTGGAG	NCBI36
NG_007381.1:g.20166_20167insTGGAG
NG_007381.2:g.20554_20555insTGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.498+58_498+59insTGGAG	ENSP00000355741.2:n.498+58_498+59insTGGAG
ENST00000366782.6:c.498+58_498+59insTGGAG	ENSP00000355746.2:n.498+58_498+59insTGGAG
ENST00000366783.8:c.498+58_498+59insTGGAG MANE Select	ENSP00000355747.3:n.498+58_498+59insTGGAG
ENST00000524196.6:c.498+58_498+59insTGGAG	ENSP00000429036.2:n.498+58_498+59insTGGAG
ENST00000626989.3:c.498+58_498+59insTGGAG	ENSP00000486498.2:n.498+58_498+59insTGGAG
ENST00000676467.1:c.*328+58_*328+59insTGGAG	ENSP00000504294.1:n.*328+58_*328+59insTGGAG
ENST00000676747.1:c.498+58_498+59insTGGAG	ENSP00000503244.1:n.498+58_498+59insTGGAG
ENST00000676840.1:c.498+58_498+59insTGGAG	ENSP00000504318.1:n.498+58_498+59insTGGAG
ENST00000676884.1:c.498+58_498+59insTGGAG	ENSP00000503200.1:n.498+58_498+59insTGGAG
ENST00000676888.1:c.498+58_498+59insTGGAG	ENSP00000504483.1:n.498+58_498+59insTGGAG
ENST00000676907.1:c.*77+58_*77+59insTGGAG	ENSP00000504410.1:n.*77+58_*77+59insTGGAG
ENST00000676945.1:c.498+58_498+59insTGGAG	ENSP00000504433.1:n.498+58_498+59insTGGAG
ENST00000677065.1:n.1059+58_1059+59insTGGAG
ENST00000677414.1:c.498+58_498+59insTGGAG	ENSP00000503116.1:n.498+58_498+59insTGGAG
ENST00000677529.1:n.936+58_936+59insTGGAG
ENST00000677596.1:c.*405+58_*405+59insTGGAG	ENSP00000503618.1:n.*405+58_*405+59insTGGAG
ENST00000677599.1:c.498+58_498+59insTGGAG	ENSP00000503673.1:n.498+58_498+59insTGGAG
ENST00000677748.1:n.936+58_936+59insTGGAG
ENST00000677880.1:c.66+58_66+59insTGGAG	ENSP00000503121.1:n.66+58_66+59insTGGAG
ENST00000678021.1:c.*121+58_*121+59insTGGAG	ENSP00000504674.1:n.*121+58_*121+59insTGGAG
ENST00000678233.1:c.498+58_498+59insTGGAG	ENSP00000504728.1:n.498+58_498+59insTGGAG
ENST00000678320.1:c.498+58_498+59insTGGAG	ENSP00000503680.1:n.498+58_498+59insTGGAG
ENST00000678655.1:c.498+58_498+59insTGGAG	ENSP00000504230.1:n.498+58_498+59insTGGAG
ENST00000678706.1:c.498+58_498+59insTGGAG	ENSP00000503659.1:n.498+58_498+59insTGGAG
ENST00000678776.1:c.*328+58_*328+59insTGGAG	ENSP00000504624.1:n.*328+58_*328+59insTGGAG
ENST00000678784.1:c.498+58_498+59insTGGAG	ENSP00000504652.1:n.498+58_498+59insTGGAG
ENST00000678820.1:c.498+58_498+59insTGGAG	ENSP00000504138.1:n.498+58_498+59insTGGAG
ENST00000678835.1:c.498+58_498+59insTGGAG	ENSP00000504343.1:n.498+58_498+59insTGGAG
ENST00000679088.1:c.498+58_498+59insTGGAG	ENSP00000504727.1:n.498+58_498+59insTGGAG
ENST00000679098.1:c.498+58_498+59insTGGAG	ENSP00000504303.1:n.498+58_498+59insTGGAG
ENST00000366782.5:c.597+58_597+59insTGGAG	ENSP00000355746.1:n.597+58_597+59insTGGAG
ENST00000366783.7:c.498+58_498+59insTGGAG	ENSP00000355747.3:n.498+58_498+59insTGGAG
ENST00000422240.6:c.498+58_498+59insTGGAG	ENSP00000403737.2:n.498+58_498+59insTGGAG
ENST00000460775.5:c.-21-2354_-21-2353insTGGAG	ENSP00000427912.1:n.-21-2354_-21-2353insTGGAG
ENST00000472139.2:c.66+58_66+59insTGGAG	ENSP00000427806.1:n.66+58_66+59insTGGAG
ENST00000626989.2:c.597+58_597+59insTGGAG	ENSP00000486498.1:n.597+58_597+59insTGGAG
NM_000447.2:c.498+58_498+59insTGGAG	NP_000438.2:n.498+58_498+59insTGGAG
NM_012486.2:c.498+58_498+59insTGGAG	NP_036618.2:n.498+58_498+59insTGGAG
XM_005273199.2:c.498+58_498+59insTGGAG	XP_005273256.1:n.498+58_498+59insTGGAG
XM_011544236.1:c.66+58_66+59insTGGAG	XP_011542538.1:n.66+58_66+59insTGGAG
XR_949149.1:n.925+58_925+59insTGGAG
XR_949150.1:n.925+58_925+59insTGGAG
XM_005273199.4:c.498+58_498+59insTGGAG	XP_005273256.1:n.498+58_498+59insTGGAG
XM_017001835.1:c.498+58_498+59insTGGAG	XP_016857324.1:n.498+58_498+59insTGGAG
XM_017001836.1:c.498+58_498+59insTGGAG	XP_016857325.1:n.498+58_498+59insTGGAG
XR_001737316.2:n.903+58_903+59insTGGAG
XR_001737317.2:n.903+58_903+59insTGGAG
XR_001737318.2:n.903+58_903+59insTGGAG
XR_001737319.1:n.1246+58_1246+59insTGGAG
XR_001737320.1:n.1246+58_1246+59insTGGAG
XR_001737321.1:n.738+58_738+59insTGGAG
XR_949149.2:n.903+58_903+59insTGGAG
XR_949150.3:n.903+58_903+59insTGGAG
NM_000447.3:c.498+58_498+59insTGGAG MANE Select	NP_000438.2:n.498+58_498+59insTGGAG
NM_012486.3:c.498+58_498+59insTGGAG	NP_036618.2:n.498+58_498+59insTGGAG