Canonical Allele Identifier: CA423520978

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227083254C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895553C>T , CM000663.2:g.226895553C>T	GRCh38
NC_000001.10:g.227083254C>T , CM000663.1:g.227083254C>T	GRCh37
NC_000001.9:g.225149877C>T	NCBI36
NG_007381.1:g.29982C>T
NG_012825.2:g.3018C>T
NG_007381.2:g.30370C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1321C>T	ENSP00000355741.2:p.Leu441=
ENST00000366782.6:c.1321C>T	ENSP00000355746.2:p.Leu441=
ENST00000366783.8:c.1321C>T MANE Select	ENSP00000355747.3:p.Leu441=
ENST00000471728.2:n.1959C>T
ENST00000524196.6:c.1321C>T	ENSP00000429036.2:p.Leu441=
ENST00000626989.3:c.1321C>T	ENSP00000486498.2:p.Leu441=
ENST00000676467.1:c.*1148C>T	ENSP00000504294.1:n.*1148C>T
ENST00000676747.1:c.1188+1428C>T	ENSP00000503244.1:n.1188+1428C>T
ENST00000676884.1:c.1321C>T	ENSP00000503200.1:p.Leu441=
ENST00000676888.1:c.*662C>T	ENSP00000504483.1:n.*662C>T
ENST00000676907.1:c.*900C>T	ENSP00000504410.1:n.*900C>T
ENST00000676945.1:c.1191+1428C>T	ENSP00000504433.1:n.1191+1428C>T
ENST00000677065.1:n.1882C>T
ENST00000677414.1:c.1321C>T	ENSP00000503116.1:p.Leu441=
ENST00000677529.1:n.3051C>T
ENST00000677596.1:c.*1543C>T	ENSP00000503618.1:n.*1543C>T
ENST00000677599.1:c.1191+1428C>T	ENSP00000503673.1:n.1191+1428C>T
ENST00000677748.1:n.3576C>T
ENST00000677880.1:c.886C>T	ENSP00000503121.1:p.Leu296=
ENST00000678021.1:c.*944C>T	ENSP00000504674.1:n.*944C>T
ENST00000678233.1:c.1321C>T	ENSP00000504728.1:p.Leu441=
ENST00000678320.1:c.1222C>T	ENSP00000503680.1:p.Leu408=
ENST00000678655.1:c.1092+1428C>T	ENSP00000504230.1:n.1092+1428C>T
ENST00000678706.1:c.*698C>T	ENSP00000503659.1:n.*698C>T
ENST00000678776.1:c.*1458C>T	ENSP00000504624.1:n.*1458C>T
ENST00000678784.1:c.1073-2167C>T	ENSP00000504652.1:n.1073-2167C>T
ENST00000678820.1:c.1089+1428C>T	ENSP00000504138.1:n.1089+1428C>T
ENST00000678835.1:c.*757-2167C>T	ENSP00000504343.1:n.*757-2167C>T
ENST00000679088.1:c.1321C>T	ENSP00000504727.1:p.Leu441=
ENST00000679098.1:c.1321C>T	ENSP00000504303.1:p.Leu441=
ENST00000366782.5:c.1420C>T	ENSP00000355746.1:p.Leu474=
ENST00000366783.7:c.1321C>T	ENSP00000355747.3:p.Leu441=
ENST00000422240.6:c.1318C>T	ENSP00000403737.2:p.Leu440=
ENST00000472139.2:c.889C>T	ENSP00000427806.1:p.Leu297=
ENST00000626989.2:c.1420C>T	ENSP00000486498.1:p.Leu474=
NM_000447.2:c.1321C>T	NP_000438.2:p.Leu441=
NM_012486.2:c.1318C>T	NP_036618.2:p.Leu440=
XM_005273199.2:c.1321C>T	XP_005273256.1:p.Leu441=
XM_011544236.1:c.889C>T	XP_011542538.1:p.Leu297=
XM_005273199.4:c.1321C>T	XP_005273256.1:p.Leu441=
XM_017001835.1:c.1321C>T	XP_016857324.1:p.Leu441=
XM_017001836.1:c.1318C>T	XP_016857325.1:p.Leu440=
XR_001737316.2:n.1478-2167C>T
XR_001737317.2:n.1478-2167C>T
XR_001737318.2:n.2036C>T
XR_001737319.1:n.2379C>T
XR_001737320.1:n.2376C>T
XR_001737321.1:n.1871C>T
XR_949149.2:n.2033C>T
XR_949150.3:n.2252C>T
NM_000447.3:c.1321C>T MANE Select	NP_000438.2:p.Leu441=
NM_012486.3:c.1318C>T	NP_036618.2:p.Leu440=