Canonical Allele Identifier: CA529170718

Gene: PSEN2

Linked Data

• dbSNP Id: rs1661345041
• gnomAD v2: 1-227073740-A-AT
• gnomAD v3: 1-226886039-A-AT
• gnomAD v4: 1-226886039-A-AT
• MyVariant Identifiers: chr1:g.227073740_227073741insT (hg19) ; chr1:g.226886039_226886040insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226886039_226886040insT , CM000663.2:g.226886039_226886040insT	GRCh38
NC_000001.10:g.227073740_227073741insT , CM000663.1:g.227073740_227073741insT	GRCh37
NC_000001.9:g.225140363_225140364insT	NCBI36
NG_007381.1:g.20468_20469insT
NG_007381.2:g.20856_20857insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.498+360_498+361insT	ENSP00000355741.2:n.498+360_498+361insT
ENST00000366782.6:c.498+360_498+361insT	ENSP00000355746.2:n.498+360_498+361insT
ENST00000366783.8:c.498+360_498+361insT MANE Select	ENSP00000355747.3:n.498+360_498+361insT
ENST00000524196.6:c.498+360_498+361insT	ENSP00000429036.2:n.498+360_498+361insT
ENST00000626989.3:c.498+360_498+361insT	ENSP00000486498.2:n.498+360_498+361insT
ENST00000676467.1:c.*328+360_*328+361insT	ENSP00000504294.1:n.*328+360_*328+361insT
ENST00000676747.1:c.498+360_498+361insT	ENSP00000503244.1:n.498+360_498+361insT
ENST00000676840.1:c.498+360_498+361insT	ENSP00000504318.1:n.498+360_498+361insT
ENST00000676884.1:c.498+360_498+361insT	ENSP00000503200.1:n.498+360_498+361insT
ENST00000676888.1:c.498+360_498+361insT	ENSP00000504483.1:n.498+360_498+361insT
ENST00000676907.1:c.*77+360_*77+361insT	ENSP00000504410.1:n.*77+360_*77+361insT
ENST00000676945.1:c.498+360_498+361insT	ENSP00000504433.1:n.498+360_498+361insT
ENST00000677065.1:n.1059+360_1059+361insT
ENST00000677414.1:c.498+360_498+361insT	ENSP00000503116.1:n.498+360_498+361insT
ENST00000677529.1:n.936+360_936+361insT
ENST00000677596.1:c.*405+360_*405+361insT	ENSP00000503618.1:n.*405+360_*405+361insT
ENST00000677599.1:c.498+360_498+361insT	ENSP00000503673.1:n.498+360_498+361insT
ENST00000677748.1:n.936+360_936+361insT
ENST00000677880.1:c.66+360_66+361insT	ENSP00000503121.1:n.66+360_66+361insT
ENST00000678021.1:c.*121+360_*121+361insT	ENSP00000504674.1:n.*121+360_*121+361insT
ENST00000678233.1:c.498+360_498+361insT	ENSP00000504728.1:n.498+360_498+361insT
ENST00000678320.1:c.498+360_498+361insT	ENSP00000503680.1:n.498+360_498+361insT
ENST00000678655.1:c.498+360_498+361insT	ENSP00000504230.1:n.498+360_498+361insT
ENST00000678706.1:c.498+360_498+361insT	ENSP00000503659.1:n.498+360_498+361insT
ENST00000678776.1:c.*328+360_*328+361insT	ENSP00000504624.1:n.*328+360_*328+361insT
ENST00000678784.1:c.498+360_498+361insT	ENSP00000504652.1:n.498+360_498+361insT
ENST00000678820.1:c.498+360_498+361insT	ENSP00000504138.1:n.498+360_498+361insT
ENST00000678835.1:c.498+360_498+361insT	ENSP00000504343.1:n.498+360_498+361insT
ENST00000679088.1:c.498+360_498+361insT	ENSP00000504727.1:n.498+360_498+361insT
ENST00000679098.1:c.498+360_498+361insT	ENSP00000504303.1:n.498+360_498+361insT
ENST00000366782.5:c.597+360_597+361insT	ENSP00000355746.1:n.597+360_597+361insT
ENST00000366783.7:c.498+360_498+361insT	ENSP00000355747.3:n.498+360_498+361insT
ENST00000422240.6:c.498+360_498+361insT	ENSP00000403737.2:n.498+360_498+361insT
ENST00000460775.5:c.-21-2052_-21-2051insT	ENSP00000427912.1:n.-21-2052_-21-2051insT
ENST00000472139.2:c.66+360_66+361insT	ENSP00000427806.1:n.66+360_66+361insT
ENST00000626989.2:c.597+360_597+361insT	ENSP00000486498.1:n.597+360_597+361insT
NM_000447.2:c.498+360_498+361insT	NP_000438.2:n.498+360_498+361insT
NM_012486.2:c.498+360_498+361insT	NP_036618.2:n.498+360_498+361insT
XM_005273199.2:c.498+360_498+361insT	XP_005273256.1:n.498+360_498+361insT
XM_011544236.1:c.66+360_66+361insT	XP_011542538.1:n.66+360_66+361insT
XR_949149.1:n.925+360_925+361insT
XR_949150.1:n.925+360_925+361insT
XM_005273199.4:c.498+360_498+361insT	XP_005273256.1:n.498+360_498+361insT
XM_017001835.1:c.498+360_498+361insT	XP_016857324.1:n.498+360_498+361insT
XM_017001836.1:c.498+360_498+361insT	XP_016857325.1:n.498+360_498+361insT
XR_001737316.2:n.903+360_903+361insT
XR_001737317.2:n.903+360_903+361insT
XR_001737318.2:n.903+360_903+361insT
XR_001737319.1:n.1246+360_1246+361insT
XR_001737320.1:n.1246+360_1246+361insT
XR_001737321.1:n.738+360_738+361insT
XR_949149.2:n.903+360_903+361insT
XR_949150.3:n.903+360_903+361insT
NM_000447.3:c.498+360_498+361insT MANE Select	NP_000438.2:n.498+360_498+361insT
NM_012486.3:c.498+360_498+361insT	NP_036618.2:n.498+360_498+361insT