Canonical Allele Identifier: CA345044783

Gene: PSEN2

Linked Data

• gnomAD v4: 1-226895452-C-T
• MyVariant Identifiers: chr1:g.227083153C>T (hg19) ; chr1:g.226895452C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895452C>T , CM000663.2:g.226895452C>T	GRCh38
NC_000001.10:g.227083153C>T , CM000663.1:g.227083153C>T	GRCh37
NC_000001.9:g.225149776C>T	NCBI36
NG_007381.1:g.29881C>T
NG_012825.2:g.2917C>T
NG_007381.2:g.30269C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1220C>T	ENSP00000355741.2:p.Ala407Val
ENST00000366782.6:c.1220C>T	ENSP00000355746.2:p.Ala407Val
ENST00000366783.8:c.1220C>T MANE Select	ENSP00000355747.3:p.Ala407Val
ENST00000471728.2:n.1858C>T
ENST00000524196.6:c.1220C>T	ENSP00000429036.2:p.Ala407Val
ENST00000626989.3:c.1220C>T	ENSP00000486498.2:p.Ala407Val
ENST00000676467.1:c.*1047C>T	ENSP00000504294.1:n.*1047C>T
ENST00000676747.1:c.1188+1327C>T	ENSP00000503244.1:n.1188+1327C>T
ENST00000676884.1:c.1220C>T	ENSP00000503200.1:p.Ala407Val
ENST00000676888.1:c.*561C>T	ENSP00000504483.1:n.*561C>T
ENST00000676907.1:c.*799C>T	ENSP00000504410.1:n.*799C>T
ENST00000676945.1:c.1191+1327C>T	ENSP00000504433.1:n.1191+1327C>T
ENST00000677065.1:n.1781C>T
ENST00000677414.1:c.1220C>T	ENSP00000503116.1:p.Ala407Val
ENST00000677529.1:n.2950C>T
ENST00000677596.1:c.*1442C>T	ENSP00000503618.1:n.*1442C>T
ENST00000677599.1:c.1191+1327C>T	ENSP00000503673.1:n.1191+1327C>T
ENST00000677748.1:n.3475C>T
ENST00000677880.1:c.785C>T	ENSP00000503121.1:p.Ala262Val
ENST00000678021.1:c.*843C>T	ENSP00000504674.1:n.*843C>T
ENST00000678233.1:c.1220C>T	ENSP00000504728.1:p.Ala407Val
ENST00000678320.1:c.1121C>T	ENSP00000503680.1:p.Ala374Val
ENST00000678655.1:c.1092+1327C>T	ENSP00000504230.1:n.1092+1327C>T
ENST00000678706.1:c.*597C>T	ENSP00000503659.1:n.*597C>T
ENST00000678776.1:c.*1357C>T	ENSP00000504624.1:n.*1357C>T
ENST00000678784.1:c.1073-2268C>T	ENSP00000504652.1:n.1073-2268C>T
ENST00000678820.1:c.1089+1327C>T	ENSP00000504138.1:n.1089+1327C>T
ENST00000678835.1:c.*757-2268C>T	ENSP00000504343.1:n.*757-2268C>T
ENST00000679088.1:c.1220C>T	ENSP00000504727.1:p.Ala407Val
ENST00000679098.1:c.1220C>T	ENSP00000504303.1:p.Ala407Val
ENST00000366782.5:c.1319C>T	ENSP00000355746.1:p.Ala440Val
ENST00000366783.7:c.1220C>T	ENSP00000355747.3:p.Ala407Val
ENST00000422240.6:c.1217C>T	ENSP00000403737.2:p.Ala406Val
ENST00000471728.1:n.478C>T
ENST00000472139.2:c.788C>T	ENSP00000427806.1:p.Ala263Val
ENST00000626989.2:c.1319C>T	ENSP00000486498.1:p.Ala440Val
NM_000447.2:c.1220C>T	NP_000438.2:p.Ala407Val
NM_012486.2:c.1217C>T	NP_036618.2:p.Ala406Val
XM_005273199.2:c.1220C>T	XP_005273256.1:p.Ala407Val
XM_011544236.1:c.788C>T	XP_011542538.1:p.Ala263Val
XR_949149.1:n.1954C>T
XM_005273199.4:c.1220C>T	XP_005273256.1:p.Ala407Val
XM_017001835.1:c.1220C>T	XP_016857324.1:p.Ala407Val
XM_017001836.1:c.1217C>T	XP_016857325.1:p.Ala406Val
XR_001737316.2:n.1478-2268C>T
XR_001737317.2:n.1478-2268C>T
XR_001737318.2:n.1935C>T
XR_001737319.1:n.2278C>T
XR_001737320.1:n.2275C>T
XR_001737321.1:n.1770C>T
XR_949149.2:n.1932C>T
XR_949150.3:n.2151C>T
NM_000447.3:c.1220C>T MANE Select	NP_000438.2:p.Ala407Val
NM_012486.3:c.1217C>T	NP_036618.2:p.Ala406Val