Canonical Allele Identifier: CA423520395

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227083127C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895426C>T , CM000663.2:g.226895426C>T	GRCh38
NC_000001.10:g.227083127C>T , CM000663.1:g.227083127C>T	GRCh37
NC_000001.9:g.225149750C>T	NCBI36
NG_007381.1:g.29855C>T
NG_012825.2:g.2891C>T
NG_007381.2:g.30243C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000366779.6:c.1194C>T	ENSP00000355741.2:p.Gly398=
ENST00000366782.6:c.1194C>T	ENSP00000355746.2:p.Gly398=
ENST00000366783.8:c.1194C>T MANE Select	ENSP00000355747.3:p.Gly398=
ENST00000471728.2:n.1832C>T
ENST00000524196.6:c.1194C>T	ENSP00000429036.2:p.Gly398=
ENST00000626989.3:c.1194C>T	ENSP00000486498.2:p.Gly398=
ENST00000676467.1:c.*1021C>T	ENSP00000504294.1:n.*1021C>T
ENST00000676747.1:c.1188+1301C>T	ENSP00000503244.1:n.1188+1301C>T
ENST00000676884.1:c.1194C>T	ENSP00000503200.1:p.Gly398=
ENST00000676888.1:c.*535C>T	ENSP00000504483.1:n.*535C>T
ENST00000676907.1:c.*773C>T	ENSP00000504410.1:n.*773C>T
ENST00000676945.1:c.1191+1301C>T	ENSP00000504433.1:n.1191+1301C>T
ENST00000677065.1:n.1755C>T
ENST00000677414.1:c.1194C>T	ENSP00000503116.1:p.Gly398=
ENST00000677529.1:n.2924C>T
ENST00000677596.1:c.*1416C>T	ENSP00000503618.1:n.*1416C>T
ENST00000677599.1:c.1191+1301C>T	ENSP00000503673.1:n.1191+1301C>T
ENST00000677748.1:n.3449C>T
ENST00000677880.1:c.759C>T	ENSP00000503121.1:p.Gly253=
ENST00000678021.1:c.*817C>T	ENSP00000504674.1:n.*817C>T
ENST00000678233.1:c.1194C>T	ENSP00000504728.1:p.Gly398=
ENST00000678320.1:c.1095C>T	ENSP00000503680.1:p.Gly365=
ENST00000678655.1:c.1092+1301C>T	ENSP00000504230.1:n.1092+1301C>T
ENST00000678706.1:c.*571C>T	ENSP00000503659.1:n.*571C>T
ENST00000678776.1:c.*1331C>T	ENSP00000504624.1:n.*1331C>T
ENST00000678784.1:c.1073-2294C>T	ENSP00000504652.1:n.1073-2294C>T
ENST00000678820.1:c.1089+1301C>T	ENSP00000504138.1:n.1089+1301C>T
ENST00000678835.1:c.*757-2294C>T	ENSP00000504343.1:n.*757-2294C>T
ENST00000679088.1:c.1194C>T	ENSP00000504727.1:p.Gly398=
ENST00000679098.1:c.1194C>T	ENSP00000504303.1:p.Gly398=
ENST00000366782.5:c.1293C>T	ENSP00000355746.1:p.Gly431=
ENST00000366783.7:c.1194C>T	ENSP00000355747.3:p.Gly398=
ENST00000422240.6:c.1191C>T	ENSP00000403737.2:p.Gly397=
ENST00000471728.1:n.452C>T
ENST00000472139.2:c.762C>T	ENSP00000427806.1:p.Gly254=
ENST00000626989.2:c.1293C>T	ENSP00000486498.1:p.Gly431=
NM_000447.2:c.1194C>T	NP_000438.2:p.Gly398=
NM_012486.2:c.1191C>T	NP_036618.2:p.Gly397=
XM_005273199.2:c.1194C>T	XP_005273256.1:p.Gly398=
XM_011544236.1:c.762C>T	XP_011542538.1:p.Gly254=
XR_949149.1:n.1928C>T
XM_005273199.4:c.1194C>T	XP_005273256.1:p.Gly398=
XM_017001835.1:c.1194C>T	XP_016857324.1:p.Gly398=
XM_017001836.1:c.1191C>T	XP_016857325.1:p.Gly397=
XR_001737316.2:n.1478-2294C>T
XR_001737317.2:n.1478-2294C>T
XR_001737318.2:n.1909C>T
XR_001737319.1:n.2252C>T
XR_001737320.1:n.2249C>T
XR_001737321.1:n.1744C>T
XR_949149.2:n.1906C>T
XR_949150.3:n.2125C>T
NM_000447.3:c.1194C>T MANE Select	NP_000438.2:p.Gly398=
NM_012486.3:c.1191C>T	NP_036618.2:p.Gly397=