Canonical Allele Identifier: CA345044287

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227081822T>A (hg19) ; chr1:g.226894121T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894121T>A , CM000663.2:g.226894121T>A	GRCh38
NC_000001.10:g.227081822T>A , CM000663.1:g.227081822T>A	GRCh37
NC_000001.9:g.225148445T>A	NCBI36
NG_007381.1:g.28550T>A
NG_012825.2:g.1586T>A
NG_007381.2:g.28938T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1187T>A	ENSP00000355741.2:p.Leu396His
ENST00000366782.6:c.1187T>A	ENSP00000355746.2:p.Leu396His
ENST00000366783.8:c.1187T>A MANE Select	ENSP00000355747.3:p.Leu396His
ENST00000471728.2:n.1825T>A
ENST00000524196.6:c.1187T>A	ENSP00000429036.2:p.Leu396His
ENST00000626989.3:c.1187T>A	ENSP00000486498.2:p.Leu396His
ENST00000676467.1:c.*1014T>A	ENSP00000504294.1:n.*1014T>A
ENST00000676747.1:c.1184T>A	ENSP00000503244.1:p.Leu395His
ENST00000676884.1:c.1187T>A	ENSP00000503200.1:p.Leu396His
ENST00000676888.1:c.*528T>A	ENSP00000504483.1:n.*528T>A
ENST00000676907.1:c.*766T>A	ENSP00000504410.1:n.*766T>A
ENST00000676945.1:c.1187T>A	ENSP00000504433.1:p.Leu396His
ENST00000677065.1:n.1748T>A
ENST00000677414.1:c.1187T>A	ENSP00000503116.1:p.Leu396His
ENST00000677529.1:n.2917T>A
ENST00000677596.1:c.*1409T>A	ENSP00000503618.1:n.*1409T>A
ENST00000677599.1:c.1187T>A	ENSP00000503673.1:p.Leu396His
ENST00000677748.1:n.3442T>A
ENST00000677880.1:c.752T>A	ENSP00000503121.1:p.Leu251His
ENST00000678021.1:c.*810T>A	ENSP00000504674.1:n.*810T>A
ENST00000678233.1:c.1187T>A	ENSP00000504728.1:p.Leu396His
ENST00000678320.1:c.1088T>A	ENSP00000503680.1:p.Leu363His
ENST00000678655.1:c.1088T>A	ENSP00000504230.1:p.Leu363His
ENST00000678706.1:c.*564T>A	ENSP00000503659.1:n.*564T>A
ENST00000678776.1:c.*1324T>A	ENSP00000504624.1:n.*1324T>A
ENST00000678784.1:c.1072+2277T>A	ENSP00000504652.1:n.1072+2277T>A
ENST00000678820.1:c.1085T>A	ENSP00000504138.1:p.Leu362His
ENST00000678835.1:c.*756+2277T>A	ENSP00000504343.1:n.*756+2277T>A
ENST00000679088.1:c.1187T>A	ENSP00000504727.1:p.Leu396His
ENST00000679098.1:c.1187T>A	ENSP00000504303.1:p.Leu396His
ENST00000366782.5:c.1286T>A	ENSP00000355746.1:p.Leu429His
ENST00000366783.7:c.1187T>A	ENSP00000355747.3:p.Leu396His
ENST00000422240.6:c.1184T>A	ENSP00000403737.2:p.Leu395His
ENST00000471728.1:n.445T>A
ENST00000472139.2:c.755T>A	ENSP00000427806.1:p.Leu252His
ENST00000626989.2:c.1286T>A	ENSP00000486498.1:p.Leu429His
NM_000447.2:c.1187T>A	NP_000438.2:p.Leu396His
NM_012486.2:c.1184T>A	NP_036618.2:p.Leu395His
XM_005273199.2:c.1187T>A	XP_005273256.1:p.Leu396His
XM_011544236.1:c.755T>A	XP_011542538.1:p.Leu252His
XR_949149.1:n.1921T>A
XM_005273199.4:c.1187T>A	XP_005273256.1:p.Leu396His
XM_017001835.1:c.1187T>A	XP_016857324.1:p.Leu396His
XM_017001836.1:c.1184T>A	XP_016857325.1:p.Leu395His
XR_001737316.2:n.1477+2277T>A
XR_001737317.2:n.1477+2277T>A
XR_001737318.2:n.1902T>A
XR_001737319.1:n.2245T>A
XR_001737320.1:n.2242T>A
XR_001737321.1:n.1737T>A
XR_949149.2:n.1899T>A
XR_949150.3:n.2118T>A
NM_000447.3:c.1187T>A MANE Select	NP_000438.2:p.Leu396His
NM_012486.3:c.1184T>A	NP_036618.2:p.Leu395His