Canonical Allele Identifier: CA345045193

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227083200G>T (hg19) ; chr1:g.226895499G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895499G>T , CM000663.2:g.226895499G>T	GRCh38
NC_000001.10:g.227083200G>T , CM000663.1:g.227083200G>T	GRCh37
NC_000001.9:g.225149823G>T	NCBI36
NG_007381.1:g.29928G>T
NG_012825.2:g.2964G>T
NG_007381.2:g.30316G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1267G>T	ENSP00000355741.2:p.Gly423Trp
ENST00000366782.6:c.1267G>T	ENSP00000355746.2:p.Gly423Trp
ENST00000366783.8:c.1267G>T MANE Select	ENSP00000355747.3:p.Gly423Trp
ENST00000471728.2:n.1905G>T
ENST00000524196.6:c.1267G>T	ENSP00000429036.2:p.Gly423Trp
ENST00000626989.3:c.1267G>T	ENSP00000486498.2:p.Gly423Trp
ENST00000676467.1:c.*1094G>T	ENSP00000504294.1:n.*1094G>T
ENST00000676747.1:c.1188+1374G>T	ENSP00000503244.1:n.1188+1374G>T
ENST00000676884.1:c.1267G>T	ENSP00000503200.1:p.Gly423Trp
ENST00000676888.1:c.*608G>T	ENSP00000504483.1:n.*608G>T
ENST00000676907.1:c.*846G>T	ENSP00000504410.1:n.*846G>T
ENST00000676945.1:c.1191+1374G>T	ENSP00000504433.1:n.1191+1374G>T
ENST00000677065.1:n.1828G>T
ENST00000677414.1:c.1267G>T	ENSP00000503116.1:p.Gly423Trp
ENST00000677529.1:n.2997G>T
ENST00000677596.1:c.*1489G>T	ENSP00000503618.1:n.*1489G>T
ENST00000677599.1:c.1191+1374G>T	ENSP00000503673.1:n.1191+1374G>T
ENST00000677748.1:n.3522G>T
ENST00000677880.1:c.832G>T	ENSP00000503121.1:p.Gly278Trp
ENST00000678021.1:c.*890G>T	ENSP00000504674.1:n.*890G>T
ENST00000678233.1:c.1267G>T	ENSP00000504728.1:p.Gly423Trp
ENST00000678320.1:c.1168G>T	ENSP00000503680.1:p.Gly390Trp
ENST00000678655.1:c.1092+1374G>T	ENSP00000504230.1:n.1092+1374G>T
ENST00000678706.1:c.*644G>T	ENSP00000503659.1:n.*644G>T
ENST00000678776.1:c.*1404G>T	ENSP00000504624.1:n.*1404G>T
ENST00000678784.1:c.1073-2221G>T	ENSP00000504652.1:n.1073-2221G>T
ENST00000678820.1:c.1089+1374G>T	ENSP00000504138.1:n.1089+1374G>T
ENST00000678835.1:c.*757-2221G>T	ENSP00000504343.1:n.*757-2221G>T
ENST00000679088.1:c.1267G>T	ENSP00000504727.1:p.Gly423Trp
ENST00000679098.1:c.1267G>T	ENSP00000504303.1:p.Gly423Trp
ENST00000366782.5:c.1366G>T	ENSP00000355746.1:p.Gly456Trp
ENST00000366783.7:c.1267G>T	ENSP00000355747.3:p.Gly423Trp
ENST00000422240.6:c.1264G>T	ENSP00000403737.2:p.Gly422Trp
ENST00000471728.1:n.525G>T
ENST00000472139.2:c.835G>T	ENSP00000427806.1:p.Gly279Trp
ENST00000626989.2:c.1366G>T	ENSP00000486498.1:p.Gly456Trp
NM_000447.2:c.1267G>T	NP_000438.2:p.Gly423Trp
NM_012486.2:c.1264G>T	NP_036618.2:p.Gly422Trp
XM_005273199.2:c.1267G>T	XP_005273256.1:p.Gly423Trp
XM_011544236.1:c.835G>T	XP_011542538.1:p.Gly279Trp
XR_949149.1:n.2001G>T
XM_005273199.4:c.1267G>T	XP_005273256.1:p.Gly423Trp
XM_017001835.1:c.1267G>T	XP_016857324.1:p.Gly423Trp
XM_017001836.1:c.1264G>T	XP_016857325.1:p.Gly422Trp
XR_001737316.2:n.1478-2221G>T
XR_001737317.2:n.1478-2221G>T
XR_001737318.2:n.1982G>T
XR_001737319.1:n.2325G>T
XR_001737320.1:n.2322G>T
XR_001737321.1:n.1817G>T
XR_949149.2:n.1979G>T
XR_949150.3:n.2198G>T
NM_000447.3:c.1267G>T MANE Select	NP_000438.2:p.Gly423Trp
NM_012486.3:c.1264G>T	NP_036618.2:p.Gly422Trp