Canonical Allele Identifier: CA345045209

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227083203C>T (hg19) ; chr1:g.226895502C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895502C>T , CM000663.2:g.226895502C>T	GRCh38
NC_000001.10:g.227083203C>T , CM000663.1:g.227083203C>T	GRCh37
NC_000001.9:g.225149826C>T	NCBI36
NG_007381.1:g.29931C>T
NG_012825.2:g.2967C>T
NG_007381.2:g.30319C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1270C>T	ENSP00000355741.2:p.Leu424Phe
ENST00000366782.6:c.1270C>T	ENSP00000355746.2:p.Leu424Phe
ENST00000366783.8:c.1270C>T MANE Select	ENSP00000355747.3:p.Leu424Phe
ENST00000471728.2:n.1908C>T
ENST00000524196.6:c.1270C>T	ENSP00000429036.2:p.Leu424Phe
ENST00000626989.3:c.1270C>T	ENSP00000486498.2:p.Leu424Phe
ENST00000676467.1:c.*1097C>T	ENSP00000504294.1:n.*1097C>T
ENST00000676747.1:c.1188+1377C>T	ENSP00000503244.1:n.1188+1377C>T
ENST00000676884.1:c.1270C>T	ENSP00000503200.1:p.Leu424Phe
ENST00000676888.1:c.*611C>T	ENSP00000504483.1:n.*611C>T
ENST00000676907.1:c.*849C>T	ENSP00000504410.1:n.*849C>T
ENST00000676945.1:c.1191+1377C>T	ENSP00000504433.1:n.1191+1377C>T
ENST00000677065.1:n.1831C>T
ENST00000677414.1:c.1270C>T	ENSP00000503116.1:p.Leu424Phe
ENST00000677529.1:n.3000C>T
ENST00000677596.1:c.*1492C>T	ENSP00000503618.1:n.*1492C>T
ENST00000677599.1:c.1191+1377C>T	ENSP00000503673.1:n.1191+1377C>T
ENST00000677748.1:n.3525C>T
ENST00000677880.1:c.835C>T	ENSP00000503121.1:p.Leu279Phe
ENST00000678021.1:c.*893C>T	ENSP00000504674.1:n.*893C>T
ENST00000678233.1:c.1270C>T	ENSP00000504728.1:p.Leu424Phe
ENST00000678320.1:c.1171C>T	ENSP00000503680.1:p.Leu391Phe
ENST00000678655.1:c.1092+1377C>T	ENSP00000504230.1:n.1092+1377C>T
ENST00000678706.1:c.*647C>T	ENSP00000503659.1:n.*647C>T
ENST00000678776.1:c.*1407C>T	ENSP00000504624.1:n.*1407C>T
ENST00000678784.1:c.1073-2218C>T	ENSP00000504652.1:n.1073-2218C>T
ENST00000678820.1:c.1089+1377C>T	ENSP00000504138.1:n.1089+1377C>T
ENST00000678835.1:c.*757-2218C>T	ENSP00000504343.1:n.*757-2218C>T
ENST00000679088.1:c.1270C>T	ENSP00000504727.1:p.Leu424Phe
ENST00000679098.1:c.1270C>T	ENSP00000504303.1:p.Leu424Phe
ENST00000366782.5:c.1369C>T	ENSP00000355746.1:p.Leu457Phe
ENST00000366783.7:c.1270C>T	ENSP00000355747.3:p.Leu424Phe
ENST00000422240.6:c.1267C>T	ENSP00000403737.2:p.Leu423Phe
ENST00000471728.1:n.528C>T
ENST00000472139.2:c.838C>T	ENSP00000427806.1:p.Leu280Phe
ENST00000626989.2:c.1369C>T	ENSP00000486498.1:p.Leu457Phe
NM_000447.2:c.1270C>T	NP_000438.2:p.Leu424Phe
NM_012486.2:c.1267C>T	NP_036618.2:p.Leu423Phe
XM_005273199.2:c.1270C>T	XP_005273256.1:p.Leu424Phe
XM_011544236.1:c.838C>T	XP_011542538.1:p.Leu280Phe
XR_949149.1:n.2004C>T
XM_005273199.4:c.1270C>T	XP_005273256.1:p.Leu424Phe
XM_017001835.1:c.1270C>T	XP_016857324.1:p.Leu424Phe
XM_017001836.1:c.1267C>T	XP_016857325.1:p.Leu423Phe
XR_001737316.2:n.1478-2218C>T
XR_001737317.2:n.1478-2218C>T
XR_001737318.2:n.1985C>T
XR_001737319.1:n.2328C>T
XR_001737320.1:n.2325C>T
XR_001737321.1:n.1820C>T
XR_949149.2:n.1982C>T
XR_949150.3:n.2201C>T
NM_000447.3:c.1270C>T MANE Select	NP_000438.2:p.Leu424Phe
NM_012486.3:c.1267C>T	NP_036618.2:p.Leu423Phe