Canonical Allele Identifier: CA345044015

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227081768C>A (hg19) ; chr1:g.226894067C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894067C>A , CM000663.2:g.226894067C>A	GRCh38
NC_000001.10:g.227081768C>A , CM000663.1:g.227081768C>A	GRCh37
NC_000001.9:g.225148391C>A	NCBI36
NG_007381.1:g.28496C>A
NG_012825.2:g.1532C>A
NG_007381.2:g.28884C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1133C>A	ENSP00000355741.2:p.Ala378Asp
ENST00000366782.6:c.1133C>A	ENSP00000355746.2:p.Ala378Asp
ENST00000366783.8:c.1133C>A MANE Select	ENSP00000355747.3:p.Ala378Asp
ENST00000471728.2:n.1771C>A
ENST00000524196.6:c.1133C>A	ENSP00000429036.2:p.Ala378Asp
ENST00000626989.3:c.1133C>A	ENSP00000486498.2:p.Ala378Asp
ENST00000676467.1:c.*960C>A	ENSP00000504294.1:n.*960C>A
ENST00000676747.1:c.1130C>A	ENSP00000503244.1:p.Ala377Asp
ENST00000676884.1:c.1133C>A	ENSP00000503200.1:p.Ala378Asp
ENST00000676888.1:c.*474C>A	ENSP00000504483.1:n.*474C>A
ENST00000676907.1:c.*712C>A	ENSP00000504410.1:n.*712C>A
ENST00000676945.1:c.1133C>A	ENSP00000504433.1:p.Ala378Asp
ENST00000677065.1:n.1694C>A
ENST00000677414.1:c.1133C>A	ENSP00000503116.1:p.Ala378Asp
ENST00000677529.1:n.2863C>A
ENST00000677596.1:c.*1355C>A	ENSP00000503618.1:n.*1355C>A
ENST00000677599.1:c.1133C>A	ENSP00000503673.1:p.Ala378Asp
ENST00000677748.1:n.3388C>A
ENST00000677880.1:c.698C>A	ENSP00000503121.1:p.Ala233Asp
ENST00000678021.1:c.*756C>A	ENSP00000504674.1:n.*756C>A
ENST00000678233.1:c.1133C>A	ENSP00000504728.1:p.Ala378Asp
ENST00000678320.1:c.1034C>A	ENSP00000503680.1:p.Ala345Asp
ENST00000678655.1:c.1034C>A	ENSP00000504230.1:p.Ala345Asp
ENST00000678706.1:c.*510C>A	ENSP00000503659.1:n.*510C>A
ENST00000678776.1:c.*1270C>A	ENSP00000504624.1:n.*1270C>A
ENST00000678784.1:c.1072+2223C>A	ENSP00000504652.1:n.1072+2223C>A
ENST00000678820.1:c.1031C>A	ENSP00000504138.1:p.Ala344Asp
ENST00000678835.1:c.*756+2223C>A	ENSP00000504343.1:n.*756+2223C>A
ENST00000679088.1:c.1133C>A	ENSP00000504727.1:p.Ala378Asp
ENST00000679098.1:c.1133C>A	ENSP00000504303.1:p.Ala378Asp
ENST00000366782.5:c.1232C>A	ENSP00000355746.1:p.Ala411Asp
ENST00000366783.7:c.1133C>A	ENSP00000355747.3:p.Ala378Asp
ENST00000422240.6:c.1130C>A	ENSP00000403737.2:p.Ala377Asp
ENST00000471728.1:n.391C>A
ENST00000472139.2:c.701C>A	ENSP00000427806.1:p.Ala234Asp
ENST00000626989.2:c.1232C>A	ENSP00000486498.1:p.Ala411Asp
NM_000447.2:c.1133C>A	NP_000438.2:p.Ala378Asp
NM_012486.2:c.1130C>A	NP_036618.2:p.Ala377Asp
XM_005273199.2:c.1133C>A	XP_005273256.1:p.Ala378Asp
XM_011544236.1:c.701C>A	XP_011542538.1:p.Ala234Asp
XR_949149.1:n.1867C>A
XM_005273199.4:c.1133C>A	XP_005273256.1:p.Ala378Asp
XM_017001835.1:c.1133C>A	XP_016857324.1:p.Ala378Asp
XM_017001836.1:c.1130C>A	XP_016857325.1:p.Ala377Asp
XR_001737316.2:n.1477+2223C>A
XR_001737317.2:n.1477+2223C>A
XR_001737318.2:n.1848C>A
XR_001737319.1:n.2191C>A
XR_001737320.1:n.2188C>A
XR_001737321.1:n.1683C>A
XR_949149.2:n.1845C>A
XR_949150.3:n.2064C>A
NM_000447.3:c.1133C>A MANE Select	NP_000438.2:p.Ala378Asp
NM_012486.3:c.1130C>A	NP_036618.2:p.Ala377Asp