Canonical Allele Identifier: CA345044208

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227081808C>A (hg19) ; chr1:g.226894107C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894107C>A , CM000663.2:g.226894107C>A	GRCh38
NC_000001.10:g.227081808C>A , CM000663.1:g.227081808C>A	GRCh37
NC_000001.9:g.225148431C>A	NCBI36
NG_007381.1:g.28536C>A
NG_012825.2:g.1572C>A
NG_007381.2:g.28924C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1173C>A	ENSP00000355741.2:p.Cys391Ter
ENST00000366782.6:c.1173C>A	ENSP00000355746.2:p.Cys391Ter
ENST00000366783.8:c.1173C>A MANE Select	ENSP00000355747.3:p.Cys391Ter
ENST00000471728.2:n.1811C>A
ENST00000524196.6:c.1173C>A	ENSP00000429036.2:p.Cys391Ter
ENST00000626989.3:c.1173C>A	ENSP00000486498.2:p.Cys391Ter
ENST00000676467.1:c.*1000C>A	ENSP00000504294.1:n.*1000C>A
ENST00000676747.1:c.1170C>A	ENSP00000503244.1:p.Cys390Ter
ENST00000676884.1:c.1173C>A	ENSP00000503200.1:p.Cys391Ter
ENST00000676888.1:c.*514C>A	ENSP00000504483.1:n.*514C>A
ENST00000676907.1:c.*752C>A	ENSP00000504410.1:n.*752C>A
ENST00000676945.1:c.1173C>A	ENSP00000504433.1:p.Cys391Ter
ENST00000677065.1:n.1734C>A
ENST00000677414.1:c.1173C>A	ENSP00000503116.1:p.Cys391Ter
ENST00000677529.1:n.2903C>A
ENST00000677596.1:c.*1395C>A	ENSP00000503618.1:n.*1395C>A
ENST00000677599.1:c.1173C>A	ENSP00000503673.1:p.Cys391Ter
ENST00000677748.1:n.3428C>A
ENST00000677880.1:c.738C>A	ENSP00000503121.1:p.Cys246Ter
ENST00000678021.1:c.*796C>A	ENSP00000504674.1:n.*796C>A
ENST00000678233.1:c.1173C>A	ENSP00000504728.1:p.Cys391Ter
ENST00000678320.1:c.1074C>A	ENSP00000503680.1:p.Cys358Ter
ENST00000678655.1:c.1074C>A	ENSP00000504230.1:p.Cys358Ter
ENST00000678706.1:c.*550C>A	ENSP00000503659.1:n.*550C>A
ENST00000678776.1:c.*1310C>A	ENSP00000504624.1:n.*1310C>A
ENST00000678784.1:c.1072+2263C>A	ENSP00000504652.1:n.1072+2263C>A
ENST00000678820.1:c.1071C>A	ENSP00000504138.1:p.Cys357Ter
ENST00000678835.1:c.*756+2263C>A	ENSP00000504343.1:n.*756+2263C>A
ENST00000679088.1:c.1173C>A	ENSP00000504727.1:p.Cys391Ter
ENST00000679098.1:c.1173C>A	ENSP00000504303.1:p.Cys391Ter
ENST00000366782.5:c.1272C>A	ENSP00000355746.1:p.Cys424Ter
ENST00000366783.7:c.1173C>A	ENSP00000355747.3:p.Cys391Ter
ENST00000422240.6:c.1170C>A	ENSP00000403737.2:p.Cys390Ter
ENST00000471728.1:n.431C>A
ENST00000472139.2:c.741C>A	ENSP00000427806.1:p.Cys247Ter
ENST00000626989.2:c.1272C>A	ENSP00000486498.1:p.Cys424Ter
NM_000447.2:c.1173C>A	NP_000438.2:p.Cys391Ter
NM_012486.2:c.1170C>A	NP_036618.2:p.Cys390Ter
XM_005273199.2:c.1173C>A	XP_005273256.1:p.Cys391Ter
XM_011544236.1:c.741C>A	XP_011542538.1:p.Cys247Ter
XR_949149.1:n.1907C>A
XM_005273199.4:c.1173C>A	XP_005273256.1:p.Cys391Ter
XM_017001835.1:c.1173C>A	XP_016857324.1:p.Cys391Ter
XM_017001836.1:c.1170C>A	XP_016857325.1:p.Cys390Ter
XR_001737316.2:n.1477+2263C>A
XR_001737317.2:n.1477+2263C>A
XR_001737318.2:n.1888C>A
XR_001737319.1:n.2231C>A
XR_001737320.1:n.2228C>A
XR_001737321.1:n.1723C>A
XR_949149.2:n.1885C>A
XR_949150.3:n.2104C>A
NM_000447.3:c.1173C>A MANE Select	NP_000438.2:p.Cys391Ter
NM_012486.3:c.1170C>A	NP_036618.2:p.Cys390Ter