Canonical Allele Identifier: CA345329971

Gene: PSEN2

Linked Data

• gnomAD v4: 1-226885555-C-T
• COSMIC: COSM5797582 ; COSM5797583
• MyVariant Identifiers: chr1:g.227073256C>T (hg19) ; chr1:g.226885555C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226885555C>T , CM000663.2:g.226885555C>T	GRCh38
NC_000001.10:g.227073256C>T , CM000663.1:g.227073256C>T	GRCh37
NC_000001.9:g.225139879C>T	NCBI36
NG_007381.1:g.19984C>T
NG_007381.2:g.20372C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000366779.6:c.374C>T	ENSP00000355741.2:p.Thr125Ile
ENST00000366782.6:c.374C>T	ENSP00000355746.2:p.Thr125Ile
ENST00000366783.8:c.374C>T MANE Select	ENSP00000355747.3:p.Thr125Ile
ENST00000524196.6:c.374C>T	ENSP00000429036.2:p.Thr125Ile
ENST00000626989.3:c.374C>T	ENSP00000486498.2:p.Thr125Ile
ENST00000676467.1:c.*204C>T	ENSP00000504294.1:n.*204C>T
ENST00000676747.1:c.374C>T	ENSP00000503244.1:p.Thr125Ile
ENST00000676840.1:c.374C>T	ENSP00000504318.1:p.Thr125Ile
ENST00000676884.1:c.374C>T	ENSP00000503200.1:p.Thr125Ile
ENST00000676888.1:c.374C>T	ENSP00000504483.1:p.Thr125Ile
ENST00000676907.1:c.451C>T	ENSP00000504410.1:p.Leu151=
ENST00000676945.1:c.374C>T	ENSP00000504433.1:p.Thr125Ile
ENST00000677065.1:n.935C>T
ENST00000677414.1:c.374C>T	ENSP00000503116.1:p.Thr125Ile
ENST00000677529.1:n.812C>T
ENST00000677596.1:c.*281C>T	ENSP00000503618.1:n.*281C>T
ENST00000677599.1:c.374C>T	ENSP00000503673.1:p.Thr125Ile
ENST00000677748.1:n.812C>T
ENST00000677880.1:c.-59C>T	ENSP00000503121.1:n.-59C>T
ENST00000678021.1:c.159C>T	ENSP00000504674.1:p.His53=
ENST00000678233.1:c.374C>T	ENSP00000504728.1:p.Thr125Ile
ENST00000678320.1:c.374C>T	ENSP00000503680.1:p.Thr125Ile
ENST00000678655.1:c.374C>T	ENSP00000504230.1:p.Thr125Ile
ENST00000678706.1:c.374C>T	ENSP00000503659.1:p.Thr125Ile
ENST00000678776.1:c.*204C>T	ENSP00000504624.1:n.*204C>T
ENST00000678784.1:c.374C>T	ENSP00000504652.1:p.Thr125Ile
ENST00000678820.1:c.374C>T	ENSP00000504138.1:p.Thr125Ile
ENST00000678835.1:c.374C>T	ENSP00000504343.1:p.Thr125Ile
ENST00000679088.1:c.374C>T	ENSP00000504727.1:p.Thr125Ile
ENST00000679098.1:c.374C>T	ENSP00000504303.1:p.Thr125Ile
ENST00000366782.5:c.473C>T	ENSP00000355746.1:p.Thr158Ile
ENST00000366783.7:c.374C>T	ENSP00000355747.3:p.Thr125Ile
ENST00000422240.6:c.374C>T	ENSP00000403737.2:p.Thr125Ile
ENST00000460775.5:c.-21-2536C>T	ENSP00000427912.1:n.-21-2536C>T
ENST00000472139.2:c.-59C>T	ENSP00000427806.1:n.-59C>T
ENST00000495488.5:c.374C>T	ENSP00000429682.1:p.Thr125Ile
ENST00000626989.2:c.473C>T	ENSP00000486498.1:p.Thr158Ile
NM_000447.2:c.374C>T	NP_000438.2:p.Thr125Ile
NM_012486.2:c.374C>T	NP_036618.2:p.Thr125Ile
XM_005273199.2:c.374C>T	XP_005273256.1:p.Thr125Ile
XM_011544236.1:c.-59C>T	XP_011542538.1:n.-59C>T
XR_949149.1:n.801C>T
XR_949150.1:n.801C>T
XM_005273199.4:c.374C>T	XP_005273256.1:p.Thr125Ile
XM_017001835.1:c.374C>T	XP_016857324.1:p.Thr125Ile
XM_017001836.1:c.374C>T	XP_016857325.1:p.Thr125Ile
XR_001737316.2:n.779C>T
XR_001737317.2:n.779C>T
XR_001737318.2:n.779C>T
XR_001737319.1:n.1122C>T
XR_001737320.1:n.1122C>T
XR_001737321.1:n.614C>T
XR_949149.2:n.779C>T
XR_949150.3:n.779C>T
NM_000447.3:c.374C>T MANE Select	NP_000438.2:p.Thr125Ile
NM_012486.3:c.374C>T	NP_036618.2:p.Thr125Ile