Canonical Allele Identifier: CA423520574

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227083163G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895462G>A , CM000663.2:g.226895462G>A	GRCh38
NC_000001.10:g.227083163G>A , CM000663.1:g.227083163G>A	GRCh37
NC_000001.9:g.225149786G>A	NCBI36
NG_007381.1:g.29891G>A
NG_012825.2:g.2927G>A
NG_007381.2:g.30279G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1230G>A	ENSP00000355741.2:p.Lys410=
ENST00000366782.6:c.1230G>A	ENSP00000355746.2:p.Lys410=
ENST00000366783.8:c.1230G>A MANE Select	ENSP00000355747.3:p.Lys410=
ENST00000471728.2:n.1868G>A
ENST00000524196.6:c.1230G>A	ENSP00000429036.2:p.Lys410=
ENST00000626989.3:c.1230G>A	ENSP00000486498.2:p.Lys410=
ENST00000676467.1:c.*1057G>A	ENSP00000504294.1:n.*1057G>A
ENST00000676747.1:c.1188+1337G>A	ENSP00000503244.1:n.1188+1337G>A
ENST00000676884.1:c.1230G>A	ENSP00000503200.1:p.Lys410=
ENST00000676888.1:c.*571G>A	ENSP00000504483.1:n.*571G>A
ENST00000676907.1:c.*809G>A	ENSP00000504410.1:n.*809G>A
ENST00000676945.1:c.1191+1337G>A	ENSP00000504433.1:n.1191+1337G>A
ENST00000677065.1:n.1791G>A
ENST00000677414.1:c.1230G>A	ENSP00000503116.1:p.Lys410=
ENST00000677529.1:n.2960G>A
ENST00000677596.1:c.*1452G>A	ENSP00000503618.1:n.*1452G>A
ENST00000677599.1:c.1191+1337G>A	ENSP00000503673.1:n.1191+1337G>A
ENST00000677748.1:n.3485G>A
ENST00000677880.1:c.795G>A	ENSP00000503121.1:p.Lys265=
ENST00000678021.1:c.*853G>A	ENSP00000504674.1:n.*853G>A
ENST00000678233.1:c.1230G>A	ENSP00000504728.1:p.Lys410=
ENST00000678320.1:c.1131G>A	ENSP00000503680.1:p.Lys377=
ENST00000678655.1:c.1092+1337G>A	ENSP00000504230.1:n.1092+1337G>A
ENST00000678706.1:c.*607G>A	ENSP00000503659.1:n.*607G>A
ENST00000678776.1:c.*1367G>A	ENSP00000504624.1:n.*1367G>A
ENST00000678784.1:c.1073-2258G>A	ENSP00000504652.1:n.1073-2258G>A
ENST00000678820.1:c.1089+1337G>A	ENSP00000504138.1:n.1089+1337G>A
ENST00000678835.1:c.*757-2258G>A	ENSP00000504343.1:n.*757-2258G>A
ENST00000679088.1:c.1230G>A	ENSP00000504727.1:p.Lys410=
ENST00000679098.1:c.1230G>A	ENSP00000504303.1:p.Lys410=
ENST00000366782.5:c.1329G>A	ENSP00000355746.1:p.Lys443=
ENST00000366783.7:c.1230G>A	ENSP00000355747.3:p.Lys410=
ENST00000422240.6:c.1227G>A	ENSP00000403737.2:p.Lys409=
ENST00000471728.1:n.488G>A
ENST00000472139.2:c.798G>A	ENSP00000427806.1:p.Lys266=
ENST00000626989.2:c.1329G>A	ENSP00000486498.1:p.Lys443=
NM_000447.2:c.1230G>A	NP_000438.2:p.Lys410=
NM_012486.2:c.1227G>A	NP_036618.2:p.Lys409=
XM_005273199.2:c.1230G>A	XP_005273256.1:p.Lys410=
XM_011544236.1:c.798G>A	XP_011542538.1:p.Lys266=
XR_949149.1:n.1964G>A
XM_005273199.4:c.1230G>A	XP_005273256.1:p.Lys410=
XM_017001835.1:c.1230G>A	XP_016857324.1:p.Lys410=
XM_017001836.1:c.1227G>A	XP_016857325.1:p.Lys409=
XR_001737316.2:n.1478-2258G>A
XR_001737317.2:n.1478-2258G>A
XR_001737318.2:n.1945G>A
XR_001737319.1:n.2288G>A
XR_001737320.1:n.2285G>A
XR_001737321.1:n.1780G>A
XR_949149.2:n.1942G>A
XR_949150.3:n.2161G>A
NM_000447.3:c.1230G>A MANE Select	NP_000438.2:p.Lys410=
NM_012486.3:c.1227G>A	NP_036618.2:p.Lys409=