Canonical Allele Identifier: CA423520987

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227083256G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895555G>T , CM000663.2:g.226895555G>T	GRCh38
NC_000001.10:g.227083256G>T , CM000663.1:g.227083256G>T	GRCh37
NC_000001.9:g.225149879G>T	NCBI36
NG_007381.1:g.29984G>T
NG_012825.2:g.3020G>T
NG_007381.2:g.30372G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1323G>T	ENSP00000355741.2:p.Leu441=
ENST00000366782.6:c.1323G>T	ENSP00000355746.2:p.Leu441=
ENST00000366783.8:c.1323G>T MANE Select	ENSP00000355747.3:p.Leu441=
ENST00000471728.2:n.1961G>T
ENST00000524196.6:c.1323G>T	ENSP00000429036.2:p.Leu441=
ENST00000626989.3:c.1323G>T	ENSP00000486498.2:p.Leu441=
ENST00000676467.1:c.*1150G>T	ENSP00000504294.1:n.*1150G>T
ENST00000676747.1:c.1188+1430G>T	ENSP00000503244.1:n.1188+1430G>T
ENST00000676884.1:c.1323G>T	ENSP00000503200.1:p.Leu441=
ENST00000676888.1:c.*664G>T	ENSP00000504483.1:n.*664G>T
ENST00000676907.1:c.*902G>T	ENSP00000504410.1:n.*902G>T
ENST00000676945.1:c.1191+1430G>T	ENSP00000504433.1:n.1191+1430G>T
ENST00000677065.1:n.1884G>T
ENST00000677414.1:c.1323G>T	ENSP00000503116.1:p.Leu441=
ENST00000677529.1:n.3053G>T
ENST00000677596.1:c.*1545G>T	ENSP00000503618.1:n.*1545G>T
ENST00000677599.1:c.1191+1430G>T	ENSP00000503673.1:n.1191+1430G>T
ENST00000677748.1:n.3578G>T
ENST00000677880.1:c.888G>T	ENSP00000503121.1:p.Leu296=
ENST00000678021.1:c.*946G>T	ENSP00000504674.1:n.*946G>T
ENST00000678233.1:c.1323G>T	ENSP00000504728.1:p.Leu441=
ENST00000678320.1:c.1224G>T	ENSP00000503680.1:p.Leu408=
ENST00000678655.1:c.1092+1430G>T	ENSP00000504230.1:n.1092+1430G>T
ENST00000678706.1:c.*700G>T	ENSP00000503659.1:n.*700G>T
ENST00000678776.1:c.*1460G>T	ENSP00000504624.1:n.*1460G>T
ENST00000678784.1:c.1073-2165G>T	ENSP00000504652.1:n.1073-2165G>T
ENST00000678820.1:c.1089+1430G>T	ENSP00000504138.1:n.1089+1430G>T
ENST00000678835.1:c.*757-2165G>T	ENSP00000504343.1:n.*757-2165G>T
ENST00000679088.1:c.1323G>T	ENSP00000504727.1:p.Leu441=
ENST00000679098.1:c.1323G>T	ENSP00000504303.1:p.Leu441=
ENST00000366782.5:c.1422G>T	ENSP00000355746.1:p.Leu474=
ENST00000366783.7:c.1323G>T	ENSP00000355747.3:p.Leu441=
ENST00000422240.6:c.1320G>T	ENSP00000403737.2:p.Leu440=
ENST00000472139.2:c.891G>T	ENSP00000427806.1:p.Leu297=
ENST00000626989.2:c.1422G>T	ENSP00000486498.1:p.Leu474=
NM_000447.2:c.1323G>T	NP_000438.2:p.Leu441=
NM_012486.2:c.1320G>T	NP_036618.2:p.Leu440=
XM_005273199.2:c.1323G>T	XP_005273256.1:p.Leu441=
XM_011544236.1:c.891G>T	XP_011542538.1:p.Leu297=
XM_005273199.4:c.1323G>T	XP_005273256.1:p.Leu441=
XM_017001835.1:c.1323G>T	XP_016857324.1:p.Leu441=
XM_017001836.1:c.1320G>T	XP_016857325.1:p.Leu440=
XR_001737316.2:n.1478-2165G>T
XR_001737317.2:n.1478-2165G>T
XR_001737318.2:n.2038G>T
XR_001737319.1:n.2381G>T
XR_001737320.1:n.2378G>T
XR_001737321.1:n.1873G>T
XR_949149.2:n.2035G>T
XR_949150.3:n.2254G>T
NM_000447.3:c.1323G>T MANE Select	NP_000438.2:p.Leu441=
NM_012486.3:c.1320G>T	NP_036618.2:p.Leu440=