Canonical Allele Identifier: CA345329550

Gene: PSEN2

Linked Data

• dbSNP Id: rs2102672203
• gnomAD v4: 1-226883741-C-T
• MyVariant Identifiers: chr1:g.227071442C>T (hg19) ; chr1:g.226883741C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226883741C>T , CM000663.2:g.226883741C>T	GRCh38
NC_000001.10:g.227071442C>T , CM000663.1:g.227071442C>T	GRCh37
NC_000001.9:g.225138065C>T	NCBI36
NG_007381.1:g.18170C>T
NG_007381.2:g.18558C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.178C>T	ENSP00000355741.2:p.Pro60Ser
ENST00000366782.6:c.178C>T	ENSP00000355746.2:p.Pro60Ser
ENST00000366783.8:c.178C>T MANE Select	ENSP00000355747.3:p.Pro60Ser
ENST00000524196.6:c.178C>T	ENSP00000429036.2:p.Pro60Ser
ENST00000626989.3:c.178C>T	ENSP00000486498.2:p.Pro60Ser
ENST00000676467.1:c.*8C>T	ENSP00000504294.1:n.*8C>T
ENST00000676747.1:c.178C>T	ENSP00000503244.1:p.Pro60Ser
ENST00000676840.1:c.178C>T	ENSP00000504318.1:p.Pro60Ser
ENST00000676884.1:c.178C>T	ENSP00000503200.1:p.Pro60Ser
ENST00000676888.1:c.178C>T	ENSP00000504483.1:p.Pro60Ser
ENST00000676907.1:c.178C>T	ENSP00000504410.1:p.Pro60Ser
ENST00000676945.1:c.178C>T	ENSP00000504433.1:p.Pro60Ser
ENST00000677065.1:n.739C>T
ENST00000677414.1:c.178C>T	ENSP00000503116.1:p.Pro60Ser
ENST00000677529.1:n.616C>T
ENST00000677596.1:c.*8C>T	ENSP00000503618.1:n.*8C>T
ENST00000677599.1:c.178C>T	ENSP00000503673.1:p.Pro60Ser
ENST00000677748.1:n.616C>T
ENST00000677880.1:c.-153-1720C>T	ENSP00000503121.1:n.-153-1720C>T
ENST00000678021.1:c.141+1693C>T	ENSP00000504674.1:n.141+1693C>T
ENST00000678233.1:c.178C>T	ENSP00000504728.1:p.Pro60Ser
ENST00000678320.1:c.178C>T	ENSP00000503680.1:p.Pro60Ser
ENST00000678655.1:c.178C>T	ENSP00000504230.1:p.Pro60Ser
ENST00000678706.1:c.178C>T	ENSP00000503659.1:p.Pro60Ser
ENST00000678776.1:c.*8C>T	ENSP00000504624.1:n.*8C>T
ENST00000678784.1:c.178C>T	ENSP00000504652.1:p.Pro60Ser
ENST00000678820.1:c.178C>T	ENSP00000504138.1:p.Pro60Ser
ENST00000678835.1:c.178C>T	ENSP00000504343.1:p.Pro60Ser
ENST00000679088.1:c.178C>T	ENSP00000504727.1:p.Pro60Ser
ENST00000679098.1:c.178C>T	ENSP00000504303.1:p.Pro60Ser
ENST00000366782.5:c.277C>T	ENSP00000355746.1:p.Pro93Ser
ENST00000366783.7:c.178C>T	ENSP00000355747.3:p.Pro60Ser
ENST00000422240.6:c.178C>T	ENSP00000403737.2:p.Pro60Ser
ENST00000460775.5:c.-21-4350C>T	ENSP00000427912.1:n.-21-4350C>T
ENST00000495488.5:c.178C>T	ENSP00000429682.1:p.Pro60Ser
ENST00000626989.2:c.277C>T	ENSP00000486498.1:p.Pro93Ser
NM_000447.2:c.178C>T	NP_000438.2:p.Pro60Ser
NM_012486.2:c.178C>T	NP_036618.2:p.Pro60Ser
XM_005273199.2:c.178C>T	XP_005273256.1:p.Pro60Ser
XM_011544236.1:c.-76-1797C>T	XP_011542538.1:n.-76-1797C>T
XR_949149.1:n.605C>T
XR_949150.1:n.605C>T
XM_005273199.4:c.178C>T	XP_005273256.1:p.Pro60Ser
XM_017001835.1:c.178C>T	XP_016857324.1:p.Pro60Ser
XM_017001836.1:c.178C>T	XP_016857325.1:p.Pro60Ser
XR_001737316.2:n.583C>T
XR_001737317.2:n.583C>T
XR_001737318.2:n.583C>T
XR_001737319.1:n.926C>T
XR_001737320.1:n.926C>T
XR_001737321.1:n.418C>T
XR_949149.2:n.583C>T
XR_949150.3:n.583C>T
NM_000447.3:c.178C>T MANE Select	NP_000438.2:p.Pro60Ser
NM_012486.3:c.178C>T	NP_036618.2:p.Pro60Ser