Canonical Allele Identifier: CA423519767

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227081802G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894101G>T , CM000663.2:g.226894101G>T	GRCh38
NC_000001.10:g.227081802G>T , CM000663.1:g.227081802G>T	GRCh37
NC_000001.9:g.225148425G>T	NCBI36
NG_007381.1:g.28530G>T
NG_012825.2:g.1566G>T
NG_007381.2:g.28918G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1167G>T	ENSP00000355741.2:p.Leu389=
ENST00000366782.6:c.1167G>T	ENSP00000355746.2:p.Leu389=
ENST00000366783.8:c.1167G>T MANE Select	ENSP00000355747.3:p.Leu389=
ENST00000471728.2:n.1805G>T
ENST00000524196.6:c.1167G>T	ENSP00000429036.2:p.Leu389=
ENST00000626989.3:c.1167G>T	ENSP00000486498.2:p.Leu389=
ENST00000676467.1:c.*994G>T	ENSP00000504294.1:n.*994G>T
ENST00000676747.1:c.1164G>T	ENSP00000503244.1:p.Leu388=
ENST00000676884.1:c.1167G>T	ENSP00000503200.1:p.Leu389=
ENST00000676888.1:c.*508G>T	ENSP00000504483.1:n.*508G>T
ENST00000676907.1:c.*746G>T	ENSP00000504410.1:n.*746G>T
ENST00000676945.1:c.1167G>T	ENSP00000504433.1:p.Leu389=
ENST00000677065.1:n.1728G>T
ENST00000677414.1:c.1167G>T	ENSP00000503116.1:p.Leu389=
ENST00000677529.1:n.2897G>T
ENST00000677596.1:c.*1389G>T	ENSP00000503618.1:n.*1389G>T
ENST00000677599.1:c.1167G>T	ENSP00000503673.1:p.Leu389=
ENST00000677748.1:n.3422G>T
ENST00000677880.1:c.732G>T	ENSP00000503121.1:p.Leu244=
ENST00000678021.1:c.*790G>T	ENSP00000504674.1:n.*790G>T
ENST00000678233.1:c.1167G>T	ENSP00000504728.1:p.Leu389=
ENST00000678320.1:c.1068G>T	ENSP00000503680.1:p.Leu356=
ENST00000678655.1:c.1068G>T	ENSP00000504230.1:p.Leu356=
ENST00000678706.1:c.*544G>T	ENSP00000503659.1:n.*544G>T
ENST00000678776.1:c.*1304G>T	ENSP00000504624.1:n.*1304G>T
ENST00000678784.1:c.1072+2257G>T	ENSP00000504652.1:n.1072+2257G>T
ENST00000678820.1:c.1065G>T	ENSP00000504138.1:p.Leu355=
ENST00000678835.1:c.*756+2257G>T	ENSP00000504343.1:n.*756+2257G>T
ENST00000679088.1:c.1167G>T	ENSP00000504727.1:p.Leu389=
ENST00000679098.1:c.1167G>T	ENSP00000504303.1:p.Leu389=
ENST00000366782.5:c.1266G>T	ENSP00000355746.1:p.Leu422=
ENST00000366783.7:c.1167G>T	ENSP00000355747.3:p.Leu389=
ENST00000422240.6:c.1164G>T	ENSP00000403737.2:p.Leu388=
ENST00000471728.1:n.425G>T
ENST00000472139.2:c.735G>T	ENSP00000427806.1:p.Leu245=
ENST00000626989.2:c.1266G>T	ENSP00000486498.1:p.Leu422=
NM_000447.2:c.1167G>T	NP_000438.2:p.Leu389=
NM_012486.2:c.1164G>T	NP_036618.2:p.Leu388=
XM_005273199.2:c.1167G>T	XP_005273256.1:p.Leu389=
XM_011544236.1:c.735G>T	XP_011542538.1:p.Leu245=
XR_949149.1:n.1901G>T
XM_005273199.4:c.1167G>T	XP_005273256.1:p.Leu389=
XM_017001835.1:c.1167G>T	XP_016857324.1:p.Leu389=
XM_017001836.1:c.1164G>T	XP_016857325.1:p.Leu388=
XR_001737316.2:n.1477+2257G>T
XR_001737317.2:n.1477+2257G>T
XR_001737318.2:n.1882G>T
XR_001737319.1:n.2225G>T
XR_001737320.1:n.2222G>T
XR_001737321.1:n.1717G>T
XR_949149.2:n.1879G>T
XR_949150.3:n.2098G>T
NM_000447.3:c.1167G>T MANE Select	NP_000438.2:p.Leu389=
NM_012486.3:c.1164G>T	NP_036618.2:p.Leu388=