Canonical Allele Identifier: CA345045828

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227083275A>T (hg19) ; chr1:g.226895574A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895574A>T , CM000663.2:g.226895574A>T	GRCh38
NC_000001.10:g.227083275A>T , CM000663.1:g.227083275A>T	GRCh37
NC_000001.9:g.225149898A>T	NCBI36
NG_007381.1:g.30003A>T
NG_012825.2:g.3039A>T
NG_007381.2:g.30391A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1342A>T	ENSP00000355741.2:p.Ile448Phe
ENST00000366782.6:c.1342A>T	ENSP00000355746.2:p.Ile448Phe
ENST00000366783.8:c.1342A>T MANE Select	ENSP00000355747.3:p.Ile448Phe
ENST00000471728.2:n.1980A>T
ENST00000524196.6:c.1342A>T	ENSP00000429036.2:p.Ile448Phe
ENST00000626989.3:c.1342A>T	ENSP00000486498.2:p.Ile448Phe
ENST00000676467.1:c.*1169A>T	ENSP00000504294.1:n.*1169A>T
ENST00000676747.1:c.1188+1449A>T	ENSP00000503244.1:n.1188+1449A>T
ENST00000676884.1:c.1342A>T	ENSP00000503200.1:p.Ile448Phe
ENST00000676888.1:c.*683A>T	ENSP00000504483.1:n.*683A>T
ENST00000676907.1:c.*921A>T	ENSP00000504410.1:n.*921A>T
ENST00000676945.1:c.1191+1449A>T	ENSP00000504433.1:n.1191+1449A>T
ENST00000677065.1:n.1903A>T
ENST00000677414.1:c.1342A>T	ENSP00000503116.1:p.Ile448Phe
ENST00000677529.1:n.3072A>T
ENST00000677596.1:c.*1564A>T	ENSP00000503618.1:n.*1564A>T
ENST00000677599.1:c.1191+1449A>T	ENSP00000503673.1:n.1191+1449A>T
ENST00000677748.1:n.3597A>T
ENST00000677880.1:c.907A>T	ENSP00000503121.1:p.Ile303Phe
ENST00000678021.1:c.*965A>T	ENSP00000504674.1:n.*965A>T
ENST00000678233.1:c.1342A>T	ENSP00000504728.1:p.Ile448Phe
ENST00000678320.1:c.1243A>T	ENSP00000503680.1:p.Ile415Phe
ENST00000678655.1:c.1092+1449A>T	ENSP00000504230.1:n.1092+1449A>T
ENST00000678706.1:c.*719A>T	ENSP00000503659.1:n.*719A>T
ENST00000678776.1:c.*1479A>T	ENSP00000504624.1:n.*1479A>T
ENST00000678784.1:c.1073-2146A>T	ENSP00000504652.1:n.1073-2146A>T
ENST00000678820.1:c.1089+1449A>T	ENSP00000504138.1:n.1089+1449A>T
ENST00000678835.1:c.*757-2146A>T	ENSP00000504343.1:n.*757-2146A>T
ENST00000679088.1:c.1342A>T	ENSP00000504727.1:p.Ile448Phe
ENST00000679098.1:c.1342A>T	ENSP00000504303.1:p.Ile448Phe
ENST00000366782.5:c.1441A>T	ENSP00000355746.1:p.Ile481Phe
ENST00000366783.7:c.1342A>T	ENSP00000355747.3:p.Ile448Phe
ENST00000422240.6:c.1339A>T	ENSP00000403737.2:p.Ile447Phe
ENST00000472139.2:c.910A>T	ENSP00000427806.1:p.Ile304Phe
ENST00000626989.2:c.1441A>T	ENSP00000486498.1:p.Ile481Phe
NM_000447.2:c.1342A>T	NP_000438.2:p.Ile448Phe
NM_012486.2:c.1339A>T	NP_036618.2:p.Ile447Phe
XM_005273199.2:c.1342A>T	XP_005273256.1:p.Ile448Phe
XM_011544236.1:c.910A>T	XP_011542538.1:p.Ile304Phe
XM_005273199.4:c.1342A>T	XP_005273256.1:p.Ile448Phe
XM_017001835.1:c.1342A>T	XP_016857324.1:p.Ile448Phe
XM_017001836.1:c.1339A>T	XP_016857325.1:p.Ile447Phe
XR_001737316.2:n.1478-2146A>T
XR_001737317.2:n.1478-2146A>T
XR_001737318.2:n.2057A>T
XR_001737319.1:n.2400A>T
XR_001737320.1:n.2397A>T
XR_001737321.1:n.1892A>T
XR_949149.2:n.2054A>T
XR_949150.3:n.2273A>T
NM_000447.3:c.1342A>T MANE Select	NP_000438.2:p.Ile448Phe
NM_012486.3:c.1339A>T	NP_036618.2:p.Ile447Phe