Canonical Allele Identifier: CA1012963116

Gene: PSEN2

Linked Data

• dbSNP Id: rs1661339264
• gnomAD v3: 1-226885982-C-CTTG
• gnomAD v4: 1-226885982-C-CTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226885982_226885983insTTG , CM000663.2:g.226885982_226885983insTTG	GRCh38
NC_000001.10:g.227073683_227073684insTTG , CM000663.1:g.227073683_227073684insTTG	GRCh37
NC_000001.9:g.225140306_225140307insTTG	NCBI36
NG_007381.1:g.20411_20412insTTG
NG_007381.2:g.20799_20800insTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.498+303_498+304insTTG	ENSP00000355741.2:n.498+303_498+304insTTG
ENST00000366782.6:c.498+303_498+304insTTG	ENSP00000355746.2:n.498+303_498+304insTTG
ENST00000366783.8:c.498+303_498+304insTTG MANE Select	ENSP00000355747.3:n.498+303_498+304insTTG
ENST00000524196.6:c.498+303_498+304insTTG	ENSP00000429036.2:n.498+303_498+304insTTG
ENST00000626989.3:c.498+303_498+304insTTG	ENSP00000486498.2:n.498+303_498+304insTTG
ENST00000676467.1:c.*328+303_*328+304insTTG	ENSP00000504294.1:n.*328+303_*328+304insTTG
ENST00000676747.1:c.498+303_498+304insTTG	ENSP00000503244.1:n.498+303_498+304insTTG
ENST00000676840.1:c.498+303_498+304insTTG	ENSP00000504318.1:n.498+303_498+304insTTG
ENST00000676884.1:c.498+303_498+304insTTG	ENSP00000503200.1:n.498+303_498+304insTTG
ENST00000676888.1:c.498+303_498+304insTTG	ENSP00000504483.1:n.498+303_498+304insTTG
ENST00000676907.1:c.*77+303_*77+304insTTG	ENSP00000504410.1:n.*77+303_*77+304insTTG
ENST00000676945.1:c.498+303_498+304insTTG	ENSP00000504433.1:n.498+303_498+304insTTG
ENST00000677065.1:n.1059+303_1059+304insTTG
ENST00000677414.1:c.498+303_498+304insTTG	ENSP00000503116.1:n.498+303_498+304insTTG
ENST00000677529.1:n.936+303_936+304insTTG
ENST00000677596.1:c.*405+303_*405+304insTTG	ENSP00000503618.1:n.*405+303_*405+304insTTG
ENST00000677599.1:c.498+303_498+304insTTG	ENSP00000503673.1:n.498+303_498+304insTTG
ENST00000677748.1:n.936+303_936+304insTTG
ENST00000677880.1:c.66+303_66+304insTTG	ENSP00000503121.1:n.66+303_66+304insTTG
ENST00000678021.1:c.*121+303_*121+304insTTG	ENSP00000504674.1:n.*121+303_*121+304insTTG
ENST00000678233.1:c.498+303_498+304insTTG	ENSP00000504728.1:n.498+303_498+304insTTG
ENST00000678320.1:c.498+303_498+304insTTG	ENSP00000503680.1:n.498+303_498+304insTTG
ENST00000678655.1:c.498+303_498+304insTTG	ENSP00000504230.1:n.498+303_498+304insTTG
ENST00000678706.1:c.498+303_498+304insTTG	ENSP00000503659.1:n.498+303_498+304insTTG
ENST00000678776.1:c.*328+303_*328+304insTTG	ENSP00000504624.1:n.*328+303_*328+304insTTG
ENST00000678784.1:c.498+303_498+304insTTG	ENSP00000504652.1:n.498+303_498+304insTTG
ENST00000678820.1:c.498+303_498+304insTTG	ENSP00000504138.1:n.498+303_498+304insTTG
ENST00000678835.1:c.498+303_498+304insTTG	ENSP00000504343.1:n.498+303_498+304insTTG
ENST00000679088.1:c.498+303_498+304insTTG	ENSP00000504727.1:n.498+303_498+304insTTG
ENST00000679098.1:c.498+303_498+304insTTG	ENSP00000504303.1:n.498+303_498+304insTTG
ENST00000366782.5:c.597+303_597+304insTTG	ENSP00000355746.1:n.597+303_597+304insTTG
ENST00000366783.7:c.498+303_498+304insTTG	ENSP00000355747.3:n.498+303_498+304insTTG
ENST00000422240.6:c.498+303_498+304insTTG	ENSP00000403737.2:n.498+303_498+304insTTG
ENST00000460775.5:c.-21-2109_-21-2108insTTG	ENSP00000427912.1:n.-21-2109_-21-2108insTTG
ENST00000472139.2:c.66+303_66+304insTTG	ENSP00000427806.1:n.66+303_66+304insTTG
ENST00000626989.2:c.597+303_597+304insTTG	ENSP00000486498.1:n.597+303_597+304insTTG
NM_000447.2:c.498+303_498+304insTTG	NP_000438.2:n.498+303_498+304insTTG
NM_012486.2:c.498+303_498+304insTTG	NP_036618.2:n.498+303_498+304insTTG
XM_005273199.2:c.498+303_498+304insTTG	XP_005273256.1:n.498+303_498+304insTTG
XM_011544236.1:c.66+303_66+304insTTG	XP_011542538.1:n.66+303_66+304insTTG
XR_949149.1:n.925+303_925+304insTTG
XR_949150.1:n.925+303_925+304insTTG
XM_005273199.4:c.498+303_498+304insTTG	XP_005273256.1:n.498+303_498+304insTTG
XM_017001835.1:c.498+303_498+304insTTG	XP_016857324.1:n.498+303_498+304insTTG
XM_017001836.1:c.498+303_498+304insTTG	XP_016857325.1:n.498+303_498+304insTTG
XR_001737316.2:n.903+303_903+304insTTG
XR_001737317.2:n.903+303_903+304insTTG
XR_001737318.2:n.903+303_903+304insTTG
XR_001737319.1:n.1246+303_1246+304insTTG
XR_001737320.1:n.1246+303_1246+304insTTG
XR_001737321.1:n.738+303_738+304insTTG
XR_949149.2:n.903+303_903+304insTTG
XR_949150.3:n.903+303_903+304insTTG
NM_000447.3:c.498+303_498+304insTTG MANE Select	NP_000438.2:n.498+303_498+304insTTG
NM_012486.3:c.498+303_498+304insTTG	NP_036618.2:n.498+303_498+304insTTG