Canonical Allele Identifier: CA345044955

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227083173C>A (hg19) ; chr1:g.226895472C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895472C>A , CM000663.2:g.226895472C>A	GRCh38
NC_000001.10:g.227083173C>A , CM000663.1:g.227083173C>A	GRCh37
NC_000001.9:g.225149796C>A	NCBI36
NG_007381.1:g.29901C>A
NG_012825.2:g.2937C>A
NG_007381.2:g.30289C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1240C>A	ENSP00000355741.2:p.Pro414Thr
ENST00000366782.6:c.1240C>A	ENSP00000355746.2:p.Pro414Thr
ENST00000366783.8:c.1240C>A MANE Select	ENSP00000355747.3:p.Pro414Thr
ENST00000471728.2:n.1878C>A
ENST00000524196.6:c.1240C>A	ENSP00000429036.2:p.Pro414Thr
ENST00000626989.3:c.1240C>A	ENSP00000486498.2:p.Pro414Thr
ENST00000676467.1:c.*1067C>A	ENSP00000504294.1:n.*1067C>A
ENST00000676747.1:c.1188+1347C>A	ENSP00000503244.1:n.1188+1347C>A
ENST00000676884.1:c.1240C>A	ENSP00000503200.1:p.Pro414Thr
ENST00000676888.1:c.*581C>A	ENSP00000504483.1:n.*581C>A
ENST00000676907.1:c.*819C>A	ENSP00000504410.1:n.*819C>A
ENST00000676945.1:c.1191+1347C>A	ENSP00000504433.1:n.1191+1347C>A
ENST00000677065.1:n.1801C>A
ENST00000677414.1:c.1240C>A	ENSP00000503116.1:p.Pro414Thr
ENST00000677529.1:n.2970C>A
ENST00000677596.1:c.*1462C>A	ENSP00000503618.1:n.*1462C>A
ENST00000677599.1:c.1191+1347C>A	ENSP00000503673.1:n.1191+1347C>A
ENST00000677748.1:n.3495C>A
ENST00000677880.1:c.805C>A	ENSP00000503121.1:p.Pro269Thr
ENST00000678021.1:c.*863C>A	ENSP00000504674.1:n.*863C>A
ENST00000678233.1:c.1240C>A	ENSP00000504728.1:p.Pro414Thr
ENST00000678320.1:c.1141C>A	ENSP00000503680.1:p.Pro381Thr
ENST00000678655.1:c.1092+1347C>A	ENSP00000504230.1:n.1092+1347C>A
ENST00000678706.1:c.*617C>A	ENSP00000503659.1:n.*617C>A
ENST00000678776.1:c.*1377C>A	ENSP00000504624.1:n.*1377C>A
ENST00000678784.1:c.1073-2248C>A	ENSP00000504652.1:n.1073-2248C>A
ENST00000678820.1:c.1089+1347C>A	ENSP00000504138.1:n.1089+1347C>A
ENST00000678835.1:c.*757-2248C>A	ENSP00000504343.1:n.*757-2248C>A
ENST00000679088.1:c.1240C>A	ENSP00000504727.1:p.Pro414Thr
ENST00000679098.1:c.1240C>A	ENSP00000504303.1:p.Pro414Thr
ENST00000366782.5:c.1339C>A	ENSP00000355746.1:p.Pro447Thr
ENST00000366783.7:c.1240C>A	ENSP00000355747.3:p.Pro414Thr
ENST00000422240.6:c.1237C>A	ENSP00000403737.2:p.Pro413Thr
ENST00000471728.1:n.498C>A
ENST00000472139.2:c.808C>A	ENSP00000427806.1:p.Pro270Thr
ENST00000626989.2:c.1339C>A	ENSP00000486498.1:p.Pro447Thr
NM_000447.2:c.1240C>A	NP_000438.2:p.Pro414Thr
NM_012486.2:c.1237C>A	NP_036618.2:p.Pro413Thr
XM_005273199.2:c.1240C>A	XP_005273256.1:p.Pro414Thr
XM_011544236.1:c.808C>A	XP_011542538.1:p.Pro270Thr
XR_949149.1:n.1974C>A
XM_005273199.4:c.1240C>A	XP_005273256.1:p.Pro414Thr
XM_017001835.1:c.1240C>A	XP_016857324.1:p.Pro414Thr
XM_017001836.1:c.1237C>A	XP_016857325.1:p.Pro413Thr
XR_001737316.2:n.1478-2248C>A
XR_001737317.2:n.1478-2248C>A
XR_001737318.2:n.1955C>A
XR_001737319.1:n.2298C>A
XR_001737320.1:n.2295C>A
XR_001737321.1:n.1790C>A
XR_949149.2:n.1952C>A
XR_949150.3:n.2171C>A
NM_000447.3:c.1240C>A MANE Select	NP_000438.2:p.Pro414Thr
NM_012486.3:c.1237C>A	NP_036618.2:p.Pro413Thr