Canonical Allele Identifier: CA345044915

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227083166G>T (hg19) ; chr1:g.226895465G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895465G>T , CM000663.2:g.226895465G>T	GRCh38
NC_000001.10:g.227083166G>T , CM000663.1:g.227083166G>T	GRCh37
NC_000001.9:g.225149789G>T	NCBI36
NG_007381.1:g.29894G>T
NG_012825.2:g.2930G>T
NG_007381.2:g.30282G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1233G>T	ENSP00000355741.2:p.Lys411Asn
ENST00000366782.6:c.1233G>T	ENSP00000355746.2:p.Lys411Asn
ENST00000366783.8:c.1233G>T MANE Select	ENSP00000355747.3:p.Lys411Asn
ENST00000471728.2:n.1871G>T
ENST00000524196.6:c.1233G>T	ENSP00000429036.2:p.Lys411Asn
ENST00000626989.3:c.1233G>T	ENSP00000486498.2:p.Lys411Asn
ENST00000676467.1:c.*1060G>T	ENSP00000504294.1:n.*1060G>T
ENST00000676747.1:c.1188+1340G>T	ENSP00000503244.1:n.1188+1340G>T
ENST00000676884.1:c.1233G>T	ENSP00000503200.1:p.Lys411Asn
ENST00000676888.1:c.*574G>T	ENSP00000504483.1:n.*574G>T
ENST00000676907.1:c.*812G>T	ENSP00000504410.1:n.*812G>T
ENST00000676945.1:c.1191+1340G>T	ENSP00000504433.1:n.1191+1340G>T
ENST00000677065.1:n.1794G>T
ENST00000677414.1:c.1233G>T	ENSP00000503116.1:p.Lys411Asn
ENST00000677529.1:n.2963G>T
ENST00000677596.1:c.*1455G>T	ENSP00000503618.1:n.*1455G>T
ENST00000677599.1:c.1191+1340G>T	ENSP00000503673.1:n.1191+1340G>T
ENST00000677748.1:n.3488G>T
ENST00000677880.1:c.798G>T	ENSP00000503121.1:p.Lys266Asn
ENST00000678021.1:c.*856G>T	ENSP00000504674.1:n.*856G>T
ENST00000678233.1:c.1233G>T	ENSP00000504728.1:p.Lys411Asn
ENST00000678320.1:c.1134G>T	ENSP00000503680.1:p.Lys378Asn
ENST00000678655.1:c.1092+1340G>T	ENSP00000504230.1:n.1092+1340G>T
ENST00000678706.1:c.*610G>T	ENSP00000503659.1:n.*610G>T
ENST00000678776.1:c.*1370G>T	ENSP00000504624.1:n.*1370G>T
ENST00000678784.1:c.1073-2255G>T	ENSP00000504652.1:n.1073-2255G>T
ENST00000678820.1:c.1089+1340G>T	ENSP00000504138.1:n.1089+1340G>T
ENST00000678835.1:c.*757-2255G>T	ENSP00000504343.1:n.*757-2255G>T
ENST00000679088.1:c.1233G>T	ENSP00000504727.1:p.Lys411Asn
ENST00000679098.1:c.1233G>T	ENSP00000504303.1:p.Lys411Asn
ENST00000366782.5:c.1332G>T	ENSP00000355746.1:p.Lys444Asn
ENST00000366783.7:c.1233G>T	ENSP00000355747.3:p.Lys411Asn
ENST00000422240.6:c.1230G>T	ENSP00000403737.2:p.Lys410Asn
ENST00000471728.1:n.491G>T
ENST00000472139.2:c.801G>T	ENSP00000427806.1:p.Lys267Asn
ENST00000626989.2:c.1332G>T	ENSP00000486498.1:p.Lys444Asn
NM_000447.2:c.1233G>T	NP_000438.2:p.Lys411Asn
NM_012486.2:c.1230G>T	NP_036618.2:p.Lys410Asn
XM_005273199.2:c.1233G>T	XP_005273256.1:p.Lys411Asn
XM_011544236.1:c.801G>T	XP_011542538.1:p.Lys267Asn
XR_949149.1:n.1967G>T
XM_005273199.4:c.1233G>T	XP_005273256.1:p.Lys411Asn
XM_017001835.1:c.1233G>T	XP_016857324.1:p.Lys411Asn
XM_017001836.1:c.1230G>T	XP_016857325.1:p.Lys410Asn
XR_001737316.2:n.1478-2255G>T
XR_001737317.2:n.1478-2255G>T
XR_001737318.2:n.1948G>T
XR_001737319.1:n.2291G>T
XR_001737320.1:n.2288G>T
XR_001737321.1:n.1783G>T
XR_949149.2:n.1945G>T
XR_949150.3:n.2164G>T
NM_000447.3:c.1233G>T MANE Select	NP_000438.2:p.Lys411Asn
NM_012486.3:c.1230G>T	NP_036618.2:p.Lys410Asn