Canonical Allele Identifier: CA345044194

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227081806T>A (hg19) ; chr1:g.226894105T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894105T>A , CM000663.2:g.226894105T>A	GRCh38
NC_000001.10:g.227081806T>A , CM000663.1:g.227081806T>A	GRCh37
NC_000001.9:g.225148429T>A	NCBI36
NG_007381.1:g.28534T>A
NG_012825.2:g.1570T>A
NG_007381.2:g.28922T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1171T>A	ENSP00000355741.2:p.Cys391Ser
ENST00000366782.6:c.1171T>A	ENSP00000355746.2:p.Cys391Ser
ENST00000366783.8:c.1171T>A MANE Select	ENSP00000355747.3:p.Cys391Ser
ENST00000471728.2:n.1809T>A
ENST00000524196.6:c.1171T>A	ENSP00000429036.2:p.Cys391Ser
ENST00000626989.3:c.1171T>A	ENSP00000486498.2:p.Cys391Ser
ENST00000676467.1:c.*998T>A	ENSP00000504294.1:n.*998T>A
ENST00000676747.1:c.1168T>A	ENSP00000503244.1:p.Cys390Ser
ENST00000676884.1:c.1171T>A	ENSP00000503200.1:p.Cys391Ser
ENST00000676888.1:c.*512T>A	ENSP00000504483.1:n.*512T>A
ENST00000676907.1:c.*750T>A	ENSP00000504410.1:n.*750T>A
ENST00000676945.1:c.1171T>A	ENSP00000504433.1:p.Cys391Ser
ENST00000677065.1:n.1732T>A
ENST00000677414.1:c.1171T>A	ENSP00000503116.1:p.Cys391Ser
ENST00000677529.1:n.2901T>A
ENST00000677596.1:c.*1393T>A	ENSP00000503618.1:n.*1393T>A
ENST00000677599.1:c.1171T>A	ENSP00000503673.1:p.Cys391Ser
ENST00000677748.1:n.3426T>A
ENST00000677880.1:c.736T>A	ENSP00000503121.1:p.Cys246Ser
ENST00000678021.1:c.*794T>A	ENSP00000504674.1:n.*794T>A
ENST00000678233.1:c.1171T>A	ENSP00000504728.1:p.Cys391Ser
ENST00000678320.1:c.1072T>A	ENSP00000503680.1:p.Cys358Ser
ENST00000678655.1:c.1072T>A	ENSP00000504230.1:p.Cys358Ser
ENST00000678706.1:c.*548T>A	ENSP00000503659.1:n.*548T>A
ENST00000678776.1:c.*1308T>A	ENSP00000504624.1:n.*1308T>A
ENST00000678784.1:c.1072+2261T>A	ENSP00000504652.1:n.1072+2261T>A
ENST00000678820.1:c.1069T>A	ENSP00000504138.1:p.Cys357Ser
ENST00000678835.1:c.*756+2261T>A	ENSP00000504343.1:n.*756+2261T>A
ENST00000679088.1:c.1171T>A	ENSP00000504727.1:p.Cys391Ser
ENST00000679098.1:c.1171T>A	ENSP00000504303.1:p.Cys391Ser
ENST00000366782.5:c.1270T>A	ENSP00000355746.1:p.Cys424Ser
ENST00000366783.7:c.1171T>A	ENSP00000355747.3:p.Cys391Ser
ENST00000422240.6:c.1168T>A	ENSP00000403737.2:p.Cys390Ser
ENST00000471728.1:n.429T>A
ENST00000472139.2:c.739T>A	ENSP00000427806.1:p.Cys247Ser
ENST00000626989.2:c.1270T>A	ENSP00000486498.1:p.Cys424Ser
NM_000447.2:c.1171T>A	NP_000438.2:p.Cys391Ser
NM_012486.2:c.1168T>A	NP_036618.2:p.Cys390Ser
XM_005273199.2:c.1171T>A	XP_005273256.1:p.Cys391Ser
XM_011544236.1:c.739T>A	XP_011542538.1:p.Cys247Ser
XR_949149.1:n.1905T>A
XM_005273199.4:c.1171T>A	XP_005273256.1:p.Cys391Ser
XM_017001835.1:c.1171T>A	XP_016857324.1:p.Cys391Ser
XM_017001836.1:c.1168T>A	XP_016857325.1:p.Cys390Ser
XR_001737316.2:n.1477+2261T>A
XR_001737317.2:n.1477+2261T>A
XR_001737318.2:n.1886T>A
XR_001737319.1:n.2229T>A
XR_001737320.1:n.2226T>A
XR_001737321.1:n.1721T>A
XR_949149.2:n.1883T>A
XR_949150.3:n.2102T>A
NM_000447.3:c.1171T>A MANE Select	NP_000438.2:p.Cys391Ser
NM_012486.3:c.1168T>A	NP_036618.2:p.Cys390Ser