Canonical Allele Identifier: CA423521052

Gene: PSEN2

Linked Data

• dbSNP Id: rs758582618
• gnomAD v2: 1-227083271-C-T
• gnomAD v4: 1-226895570-C-T
• MyVariant Identifiers: chr1:g.227083271C>T (hg19) ; chr1:g.226895570C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895570C>T , CM000663.2:g.226895570C>T	GRCh38
NC_000001.10:g.227083271C>T , CM000663.1:g.227083271C>T	GRCh37
NC_000001.9:g.225149894C>T	NCBI36
NG_007381.1:g.29999C>T
NG_012825.2:g.3035C>T
NG_007381.2:g.30387C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1338C>T	ENSP00000355741.2:p.Leu446=
ENST00000366782.6:c.1338C>T	ENSP00000355746.2:p.Leu446=
ENST00000366783.8:c.1338C>T MANE Select	ENSP00000355747.3:p.Leu446=
ENST00000471728.2:n.1976C>T
ENST00000524196.6:c.1338C>T	ENSP00000429036.2:p.Leu446=
ENST00000626989.3:c.1338C>T	ENSP00000486498.2:p.Leu446=
ENST00000676467.1:c.*1165C>T	ENSP00000504294.1:n.*1165C>T
ENST00000676747.1:c.1188+1445C>T	ENSP00000503244.1:n.1188+1445C>T
ENST00000676884.1:c.1338C>T	ENSP00000503200.1:p.Leu446=
ENST00000676888.1:c.*679C>T	ENSP00000504483.1:n.*679C>T
ENST00000676907.1:c.*917C>T	ENSP00000504410.1:n.*917C>T
ENST00000676945.1:c.1191+1445C>T	ENSP00000504433.1:n.1191+1445C>T
ENST00000677065.1:n.1899C>T
ENST00000677414.1:c.1338C>T	ENSP00000503116.1:p.Leu446=
ENST00000677529.1:n.3068C>T
ENST00000677596.1:c.*1560C>T	ENSP00000503618.1:n.*1560C>T
ENST00000677599.1:c.1191+1445C>T	ENSP00000503673.1:n.1191+1445C>T
ENST00000677748.1:n.3593C>T
ENST00000677880.1:c.903C>T	ENSP00000503121.1:p.Leu301=
ENST00000678021.1:c.*961C>T	ENSP00000504674.1:n.*961C>T
ENST00000678233.1:c.1338C>T	ENSP00000504728.1:p.Leu446=
ENST00000678320.1:c.1239C>T	ENSP00000503680.1:p.Leu413=
ENST00000678655.1:c.1092+1445C>T	ENSP00000504230.1:n.1092+1445C>T
ENST00000678706.1:c.*715C>T	ENSP00000503659.1:n.*715C>T
ENST00000678776.1:c.*1475C>T	ENSP00000504624.1:n.*1475C>T
ENST00000678784.1:c.1073-2150C>T	ENSP00000504652.1:n.1073-2150C>T
ENST00000678820.1:c.1089+1445C>T	ENSP00000504138.1:n.1089+1445C>T
ENST00000678835.1:c.*757-2150C>T	ENSP00000504343.1:n.*757-2150C>T
ENST00000679088.1:c.1338C>T	ENSP00000504727.1:p.Leu446=
ENST00000679098.1:c.1338C>T	ENSP00000504303.1:p.Leu446=
ENST00000366782.5:c.1437C>T	ENSP00000355746.1:p.Leu479=
ENST00000366783.7:c.1338C>T	ENSP00000355747.3:p.Leu446=
ENST00000422240.6:c.1335C>T	ENSP00000403737.2:p.Leu445=
ENST00000472139.2:c.906C>T	ENSP00000427806.1:p.Leu302=
ENST00000626989.2:c.1437C>T	ENSP00000486498.1:p.Leu479=
NM_000447.2:c.1338C>T	NP_000438.2:p.Leu446=
NM_012486.2:c.1335C>T	NP_036618.2:p.Leu445=
XM_005273199.2:c.1338C>T	XP_005273256.1:p.Leu446=
XM_011544236.1:c.906C>T	XP_011542538.1:p.Leu302=
XM_005273199.4:c.1338C>T	XP_005273256.1:p.Leu446=
XM_017001835.1:c.1338C>T	XP_016857324.1:p.Leu446=
XM_017001836.1:c.1335C>T	XP_016857325.1:p.Leu445=
XR_001737316.2:n.1478-2150C>T
XR_001737317.2:n.1478-2150C>T
XR_001737318.2:n.2053C>T
XR_001737319.1:n.2396C>T
XR_001737320.1:n.2393C>T
XR_001737321.1:n.1888C>T
XR_949149.2:n.2050C>T
XR_949150.3:n.2269C>T
NM_000447.3:c.1338C>T MANE Select	NP_000438.2:p.Leu446=
NM_012486.3:c.1335C>T	NP_036618.2:p.Leu445=