Canonical Allele Identifier: CA345045044

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227083183C>T (hg19) ; chr1:g.226895482C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895482C>T , CM000663.2:g.226895482C>T	GRCh38
NC_000001.10:g.227083183C>T , CM000663.1:g.227083183C>T	GRCh37
NC_000001.9:g.225149806C>T	NCBI36
NG_007381.1:g.29911C>T
NG_012825.2:g.2947C>T
NG_007381.2:g.30299C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1250C>T	ENSP00000355741.2:p.Pro417Leu
ENST00000366782.6:c.1250C>T	ENSP00000355746.2:p.Pro417Leu
ENST00000366783.8:c.1250C>T MANE Select	ENSP00000355747.3:p.Pro417Leu
ENST00000471728.2:n.1888C>T
ENST00000524196.6:c.1250C>T	ENSP00000429036.2:p.Pro417Leu
ENST00000626989.3:c.1250C>T	ENSP00000486498.2:p.Pro417Leu
ENST00000676467.1:c.*1077C>T	ENSP00000504294.1:n.*1077C>T
ENST00000676747.1:c.1188+1357C>T	ENSP00000503244.1:n.1188+1357C>T
ENST00000676884.1:c.1250C>T	ENSP00000503200.1:p.Pro417Leu
ENST00000676888.1:c.*591C>T	ENSP00000504483.1:n.*591C>T
ENST00000676907.1:c.*829C>T	ENSP00000504410.1:n.*829C>T
ENST00000676945.1:c.1191+1357C>T	ENSP00000504433.1:n.1191+1357C>T
ENST00000677065.1:n.1811C>T
ENST00000677414.1:c.1250C>T	ENSP00000503116.1:p.Pro417Leu
ENST00000677529.1:n.2980C>T
ENST00000677596.1:c.*1472C>T	ENSP00000503618.1:n.*1472C>T
ENST00000677599.1:c.1191+1357C>T	ENSP00000503673.1:n.1191+1357C>T
ENST00000677748.1:n.3505C>T
ENST00000677880.1:c.815C>T	ENSP00000503121.1:p.Pro272Leu
ENST00000678021.1:c.*873C>T	ENSP00000504674.1:n.*873C>T
ENST00000678233.1:c.1250C>T	ENSP00000504728.1:p.Pro417Leu
ENST00000678320.1:c.1151C>T	ENSP00000503680.1:p.Pro384Leu
ENST00000678655.1:c.1092+1357C>T	ENSP00000504230.1:n.1092+1357C>T
ENST00000678706.1:c.*627C>T	ENSP00000503659.1:n.*627C>T
ENST00000678776.1:c.*1387C>T	ENSP00000504624.1:n.*1387C>T
ENST00000678784.1:c.1073-2238C>T	ENSP00000504652.1:n.1073-2238C>T
ENST00000678820.1:c.1089+1357C>T	ENSP00000504138.1:n.1089+1357C>T
ENST00000678835.1:c.*757-2238C>T	ENSP00000504343.1:n.*757-2238C>T
ENST00000679088.1:c.1250C>T	ENSP00000504727.1:p.Pro417Leu
ENST00000679098.1:c.1250C>T	ENSP00000504303.1:p.Pro417Leu
ENST00000366782.5:c.1349C>T	ENSP00000355746.1:p.Pro450Leu
ENST00000366783.7:c.1250C>T	ENSP00000355747.3:p.Pro417Leu
ENST00000422240.6:c.1247C>T	ENSP00000403737.2:p.Pro416Leu
ENST00000471728.1:n.508C>T
ENST00000472139.2:c.818C>T	ENSP00000427806.1:p.Pro273Leu
ENST00000626989.2:c.1349C>T	ENSP00000486498.1:p.Pro450Leu
NM_000447.2:c.1250C>T	NP_000438.2:p.Pro417Leu
NM_012486.2:c.1247C>T	NP_036618.2:p.Pro416Leu
XM_005273199.2:c.1250C>T	XP_005273256.1:p.Pro417Leu
XM_011544236.1:c.818C>T	XP_011542538.1:p.Pro273Leu
XR_949149.1:n.1984C>T
XM_005273199.4:c.1250C>T	XP_005273256.1:p.Pro417Leu
XM_017001835.1:c.1250C>T	XP_016857324.1:p.Pro417Leu
XM_017001836.1:c.1247C>T	XP_016857325.1:p.Pro416Leu
XR_001737316.2:n.1478-2238C>T
XR_001737317.2:n.1478-2238C>T
XR_001737318.2:n.1965C>T
XR_001737319.1:n.2308C>T
XR_001737320.1:n.2305C>T
XR_001737321.1:n.1800C>T
XR_949149.2:n.1962C>T
XR_949150.3:n.2181C>T
NM_000447.3:c.1250C>T MANE Select	NP_000438.2:p.Pro417Leu
NM_012486.3:c.1247C>T	NP_036618.2:p.Pro416Leu