Canonical Allele Identifier: CA345040419

Gene: PSEN2

Linked Data

• dbSNP Id: rs1418449389
• gnomAD v3: 1-226888915-G-A
• gnomAD v4: 1-226888915-G-A
• MyVariant Identifiers: chr1:g.227076616G>A (hg19) ; chr1:g.226888915G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226888915G>A , CM000663.2:g.226888915G>A	GRCh38
NC_000001.10:g.227076616G>A , CM000663.1:g.227076616G>A	GRCh37
NC_000001.9:g.225143239G>A	NCBI36
NG_007381.1:g.23344G>A
NG_007381.2:g.23732G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366779.6:c.653G>A	ENSP00000355741.2:p.Cys218Tyr
ENST00000366782.6:c.653G>A	ENSP00000355746.2:p.Cys218Tyr
ENST00000366783.8:c.653G>A MANE Select	ENSP00000355747.3:p.Cys218Tyr
ENST00000524196.6:c.653G>A	ENSP00000429036.2:p.Cys218Tyr
ENST00000626989.3:c.653G>A	ENSP00000486498.2:p.Cys218Tyr
ENST00000676467.1:c.*483G>A	ENSP00000504294.1:n.*483G>A
ENST00000676747.1:c.653G>A	ENSP00000503244.1:p.Cys218Tyr
ENST00000676840.1:c.653G>A	ENSP00000504318.1:p.Cys218Tyr
ENST00000676884.1:c.653G>A	ENSP00000503200.1:p.Cys218Tyr
ENST00000676888.1:c.653G>A	ENSP00000504483.1:p.Cys218Tyr
ENST00000676907.1:c.*232G>A	ENSP00000504410.1:n.*232G>A
ENST00000676945.1:c.653G>A	ENSP00000504433.1:p.Cys218Tyr
ENST00000677065.1:n.1214G>A
ENST00000677414.1:c.653G>A	ENSP00000503116.1:p.Cys218Tyr
ENST00000677529.1:n.1091G>A
ENST00000677596.1:c.*560G>A	ENSP00000503618.1:n.*560G>A
ENST00000677599.1:c.653G>A	ENSP00000503673.1:p.Cys218Tyr
ENST00000677748.1:n.1091G>A
ENST00000677880.1:c.221G>A	ENSP00000503121.1:p.Cys74Tyr
ENST00000678021.1:c.*276G>A	ENSP00000504674.1:n.*276G>A
ENST00000678233.1:c.653G>A	ENSP00000504728.1:p.Cys218Tyr
ENST00000678320.1:c.653G>A	ENSP00000503680.1:p.Cys218Tyr
ENST00000678655.1:c.653G>A	ENSP00000504230.1:p.Cys218Tyr
ENST00000678706.1:c.653G>A	ENSP00000503659.1:p.Cys218Tyr
ENST00000678776.1:c.*483G>A	ENSP00000504624.1:n.*483G>A
ENST00000678784.1:c.653G>A	ENSP00000504652.1:p.Cys218Tyr
ENST00000678820.1:c.653G>A	ENSP00000504138.1:p.Cys218Tyr
ENST00000678835.1:c.653G>A	ENSP00000504343.1:p.Cys218Tyr
ENST00000679088.1:c.653G>A	ENSP00000504727.1:p.Cys218Tyr
ENST00000679098.1:c.653G>A	ENSP00000504303.1:p.Cys218Tyr
ENST00000366782.5:c.752G>A	ENSP00000355746.1:p.Cys251Tyr
ENST00000366783.7:c.653G>A	ENSP00000355747.3:p.Cys218Tyr
ENST00000422240.6:c.653G>A	ENSP00000403737.2:p.Cys218Tyr
ENST00000460775.5:c.134G>A	ENSP00000427912.1:p.Cys45Tyr
ENST00000472139.2:c.221G>A	ENSP00000427806.1:p.Cys74Tyr
ENST00000626989.2:c.752G>A	ENSP00000486498.1:p.Cys251Tyr
NM_000447.2:c.653G>A	NP_000438.2:p.Cys218Tyr
NM_012486.2:c.653G>A	NP_036618.2:p.Cys218Tyr
XM_005273199.2:c.653G>A	XP_005273256.1:p.Cys218Tyr
XM_011544236.1:c.221G>A	XP_011542538.1:p.Cys74Tyr
XR_949149.1:n.1080G>A
XR_949150.1:n.1080G>A
XM_005273199.4:c.653G>A	XP_005273256.1:p.Cys218Tyr
XM_017001835.1:c.653G>A	XP_016857324.1:p.Cys218Tyr
XM_017001836.1:c.653G>A	XP_016857325.1:p.Cys218Tyr
XR_001737316.2:n.1058G>A
XR_001737317.2:n.1058G>A
XR_001737318.2:n.1058G>A
XR_001737319.1:n.1401G>A
XR_001737320.1:n.1401G>A
XR_001737321.1:n.893G>A
XR_949149.2:n.1058G>A
XR_949150.3:n.1058G>A
NM_000447.3:c.653G>A MANE Select	NP_000438.2:p.Cys218Tyr
NM_012486.3:c.653G>A	NP_036618.2:p.Cys218Tyr