Canonical Allele Identifier: CA345330026

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227073285C>A (hg19) ; chr1:g.226885584C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226885584C>A , CM000663.2:g.226885584C>A	GRCh38
NC_000001.10:g.227073285C>A , CM000663.1:g.227073285C>A	GRCh37
NC_000001.9:g.225139908C>A	NCBI36
NG_007381.1:g.20013C>A
NG_007381.2:g.20401C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.403C>A	ENSP00000355741.2:p.Leu135Ile
ENST00000366782.6:c.403C>A	ENSP00000355746.2:p.Leu135Ile
ENST00000366783.8:c.403C>A MANE Select	ENSP00000355747.3:p.Leu135Ile
ENST00000524196.6:c.403C>A	ENSP00000429036.2:p.Leu135Ile
ENST00000626989.3:c.403C>A	ENSP00000486498.2:p.Leu135Ile
ENST00000676467.1:c.*233C>A	ENSP00000504294.1:n.*233C>A
ENST00000676747.1:c.403C>A	ENSP00000503244.1:p.Leu135Ile
ENST00000676840.1:c.403C>A	ENSP00000504318.1:p.Leu135Ile
ENST00000676884.1:c.403C>A	ENSP00000503200.1:p.Leu135Ile
ENST00000676888.1:c.403C>A	ENSP00000504483.1:p.Leu135Ile
ENST00000676907.1:c.480C>A	ENSP00000504410.1:p.Ala160=
ENST00000676945.1:c.403C>A	ENSP00000504433.1:p.Leu135Ile
ENST00000677065.1:n.964C>A
ENST00000677414.1:c.403C>A	ENSP00000503116.1:p.Leu135Ile
ENST00000677529.1:n.841C>A
ENST00000677596.1:c.*310C>A	ENSP00000503618.1:n.*310C>A
ENST00000677599.1:c.403C>A	ENSP00000503673.1:p.Leu135Ile
ENST00000677748.1:n.841C>A
ENST00000677880.1:c.-30C>A	ENSP00000503121.1:n.-30C>A
ENST00000678021.1:c.*26C>A	ENSP00000504674.1:n.*26C>A
ENST00000678233.1:c.403C>A	ENSP00000504728.1:p.Leu135Ile
ENST00000678320.1:c.403C>A	ENSP00000503680.1:p.Leu135Ile
ENST00000678655.1:c.403C>A	ENSP00000504230.1:p.Leu135Ile
ENST00000678706.1:c.403C>A	ENSP00000503659.1:p.Leu135Ile
ENST00000678776.1:c.*233C>A	ENSP00000504624.1:n.*233C>A
ENST00000678784.1:c.403C>A	ENSP00000504652.1:p.Leu135Ile
ENST00000678820.1:c.403C>A	ENSP00000504138.1:p.Leu135Ile
ENST00000678835.1:c.403C>A	ENSP00000504343.1:p.Leu135Ile
ENST00000679088.1:c.403C>A	ENSP00000504727.1:p.Leu135Ile
ENST00000679098.1:c.403C>A	ENSP00000504303.1:p.Leu135Ile
ENST00000366782.5:c.502C>A	ENSP00000355746.1:p.Leu168Ile
ENST00000366783.7:c.403C>A	ENSP00000355747.3:p.Leu135Ile
ENST00000422240.6:c.403C>A	ENSP00000403737.2:p.Leu135Ile
ENST00000460775.5:c.-21-2507C>A	ENSP00000427912.1:n.-21-2507C>A
ENST00000472139.2:c.-30C>A	ENSP00000427806.1:n.-30C>A
ENST00000626989.2:c.502C>A	ENSP00000486498.1:p.Leu168Ile
NM_000447.2:c.403C>A	NP_000438.2:p.Leu135Ile
NM_012486.2:c.403C>A	NP_036618.2:p.Leu135Ile
XM_005273199.2:c.403C>A	XP_005273256.1:p.Leu135Ile
XM_011544236.1:c.-30C>A	XP_011542538.1:n.-30C>A
XR_949149.1:n.830C>A
XR_949150.1:n.830C>A
XM_005273199.4:c.403C>A	XP_005273256.1:p.Leu135Ile
XM_017001835.1:c.403C>A	XP_016857324.1:p.Leu135Ile
XM_017001836.1:c.403C>A	XP_016857325.1:p.Leu135Ile
XR_001737316.2:n.808C>A
XR_001737317.2:n.808C>A
XR_001737318.2:n.808C>A
XR_001737319.1:n.1151C>A
XR_001737320.1:n.1151C>A
XR_001737321.1:n.643C>A
XR_949149.2:n.808C>A
XR_949150.3:n.808C>A
NM_000447.3:c.403C>A MANE Select	NP_000438.2:p.Leu135Ile
NM_012486.3:c.403C>A	NP_036618.2:p.Leu135Ile