Canonical Allele Identifier: CA423520407

Gene: PSEN2

Linked Data

• dbSNP Id: rs1662076227
• gnomAD v3: 1-226895429-G-A
• gnomAD v4: 1-226895429-G-A
• MyVariant Identifiers: chr1:g.227083130G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895429G>A , CM000663.2:g.226895429G>A	GRCh38
NC_000001.10:g.227083130G>A , CM000663.1:g.227083130G>A	GRCh37
NC_000001.9:g.225149753G>A	NCBI36
NG_007381.1:g.29858G>A
NG_012825.2:g.2894G>A
NG_007381.2:g.30246G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366779.6:c.1197G>A	ENSP00000355741.2:p.Leu399=
ENST00000366782.6:c.1197G>A	ENSP00000355746.2:p.Leu399=
ENST00000366783.8:c.1197G>A MANE Select	ENSP00000355747.3:p.Leu399=
ENST00000471728.2:n.1835G>A
ENST00000524196.6:c.1197G>A	ENSP00000429036.2:p.Leu399=
ENST00000626989.3:c.1197G>A	ENSP00000486498.2:p.Leu399=
ENST00000676467.1:c.*1024G>A	ENSP00000504294.1:n.*1024G>A
ENST00000676747.1:c.1188+1304G>A	ENSP00000503244.1:n.1188+1304G>A
ENST00000676884.1:c.1197G>A	ENSP00000503200.1:p.Leu399=
ENST00000676888.1:c.*538G>A	ENSP00000504483.1:n.*538G>A
ENST00000676907.1:c.*776G>A	ENSP00000504410.1:n.*776G>A
ENST00000676945.1:c.1191+1304G>A	ENSP00000504433.1:n.1191+1304G>A
ENST00000677065.1:n.1758G>A
ENST00000677414.1:c.1197G>A	ENSP00000503116.1:p.Leu399=
ENST00000677529.1:n.2927G>A
ENST00000677596.1:c.*1419G>A	ENSP00000503618.1:n.*1419G>A
ENST00000677599.1:c.1191+1304G>A	ENSP00000503673.1:n.1191+1304G>A
ENST00000677748.1:n.3452G>A
ENST00000677880.1:c.762G>A	ENSP00000503121.1:p.Leu254=
ENST00000678021.1:c.*820G>A	ENSP00000504674.1:n.*820G>A
ENST00000678233.1:c.1197G>A	ENSP00000504728.1:p.Leu399=
ENST00000678320.1:c.1098G>A	ENSP00000503680.1:p.Leu366=
ENST00000678655.1:c.1092+1304G>A	ENSP00000504230.1:n.1092+1304G>A
ENST00000678706.1:c.*574G>A	ENSP00000503659.1:n.*574G>A
ENST00000678776.1:c.*1334G>A	ENSP00000504624.1:n.*1334G>A
ENST00000678784.1:c.1073-2291G>A	ENSP00000504652.1:n.1073-2291G>A
ENST00000678820.1:c.1089+1304G>A	ENSP00000504138.1:n.1089+1304G>A
ENST00000678835.1:c.*757-2291G>A	ENSP00000504343.1:n.*757-2291G>A
ENST00000679088.1:c.1197G>A	ENSP00000504727.1:p.Leu399=
ENST00000679098.1:c.1197G>A	ENSP00000504303.1:p.Leu399=
ENST00000366782.5:c.1296G>A	ENSP00000355746.1:p.Leu432=
ENST00000366783.7:c.1197G>A	ENSP00000355747.3:p.Leu399=
ENST00000422240.6:c.1194G>A	ENSP00000403737.2:p.Leu398=
ENST00000471728.1:n.455G>A
ENST00000472139.2:c.765G>A	ENSP00000427806.1:p.Leu255=
ENST00000626989.2:c.1296G>A	ENSP00000486498.1:p.Leu432=
NM_000447.2:c.1197G>A	NP_000438.2:p.Leu399=
NM_012486.2:c.1194G>A	NP_036618.2:p.Leu398=
XM_005273199.2:c.1197G>A	XP_005273256.1:p.Leu399=
XM_011544236.1:c.765G>A	XP_011542538.1:p.Leu255=
XR_949149.1:n.1931G>A
XM_005273199.4:c.1197G>A	XP_005273256.1:p.Leu399=
XM_017001835.1:c.1197G>A	XP_016857324.1:p.Leu399=
XM_017001836.1:c.1194G>A	XP_016857325.1:p.Leu398=
XR_001737316.2:n.1478-2291G>A
XR_001737317.2:n.1478-2291G>A
XR_001737318.2:n.1912G>A
XR_001737319.1:n.2255G>A
XR_001737320.1:n.2252G>A
XR_001737321.1:n.1747G>A
XR_949149.2:n.1909G>A
XR_949150.3:n.2128G>A
NM_000447.3:c.1197G>A MANE Select	NP_000438.2:p.Leu399=
NM_012486.3:c.1194G>A	NP_036618.2:p.Leu398=