Canonical Allele Identifier: CA345044672

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227083138C>A (hg19) ; chr1:g.226895437C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895437C>A , CM000663.2:g.226895437C>A	GRCh38
NC_000001.10:g.227083138C>A , CM000663.1:g.227083138C>A	GRCh37
NC_000001.9:g.225149761C>A	NCBI36
NG_007381.1:g.29866C>A
NG_012825.2:g.2902C>A
NG_007381.2:g.30254C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1205C>A	ENSP00000355741.2:p.Thr402Asn
ENST00000366782.6:c.1205C>A	ENSP00000355746.2:p.Thr402Asn
ENST00000366783.8:c.1205C>A MANE Select	ENSP00000355747.3:p.Thr402Asn
ENST00000471728.2:n.1843C>A
ENST00000524196.6:c.1205C>A	ENSP00000429036.2:p.Thr402Asn
ENST00000626989.3:c.1205C>A	ENSP00000486498.2:p.Thr402Asn
ENST00000676467.1:c.*1032C>A	ENSP00000504294.1:n.*1032C>A
ENST00000676747.1:c.1188+1312C>A	ENSP00000503244.1:n.1188+1312C>A
ENST00000676884.1:c.1205C>A	ENSP00000503200.1:p.Thr402Asn
ENST00000676888.1:c.*546C>A	ENSP00000504483.1:n.*546C>A
ENST00000676907.1:c.*784C>A	ENSP00000504410.1:n.*784C>A
ENST00000676945.1:c.1191+1312C>A	ENSP00000504433.1:n.1191+1312C>A
ENST00000677065.1:n.1766C>A
ENST00000677414.1:c.1205C>A	ENSP00000503116.1:p.Thr402Asn
ENST00000677529.1:n.2935C>A
ENST00000677596.1:c.*1427C>A	ENSP00000503618.1:n.*1427C>A
ENST00000677599.1:c.1191+1312C>A	ENSP00000503673.1:n.1191+1312C>A
ENST00000677748.1:n.3460C>A
ENST00000677880.1:c.770C>A	ENSP00000503121.1:p.Thr257Asn
ENST00000678021.1:c.*828C>A	ENSP00000504674.1:n.*828C>A
ENST00000678233.1:c.1205C>A	ENSP00000504728.1:p.Thr402Asn
ENST00000678320.1:c.1106C>A	ENSP00000503680.1:p.Thr369Asn
ENST00000678655.1:c.1092+1312C>A	ENSP00000504230.1:n.1092+1312C>A
ENST00000678706.1:c.*582C>A	ENSP00000503659.1:n.*582C>A
ENST00000678776.1:c.*1342C>A	ENSP00000504624.1:n.*1342C>A
ENST00000678784.1:c.1073-2283C>A	ENSP00000504652.1:n.1073-2283C>A
ENST00000678820.1:c.1089+1312C>A	ENSP00000504138.1:n.1089+1312C>A
ENST00000678835.1:c.*757-2283C>A	ENSP00000504343.1:n.*757-2283C>A
ENST00000679088.1:c.1205C>A	ENSP00000504727.1:p.Thr402Asn
ENST00000679098.1:c.1205C>A	ENSP00000504303.1:p.Thr402Asn
ENST00000366782.5:c.1304C>A	ENSP00000355746.1:p.Thr435Asn
ENST00000366783.7:c.1205C>A	ENSP00000355747.3:p.Thr402Asn
ENST00000422240.6:c.1202C>A	ENSP00000403737.2:p.Thr401Asn
ENST00000471728.1:n.463C>A
ENST00000472139.2:c.773C>A	ENSP00000427806.1:p.Thr258Asn
ENST00000626989.2:c.1304C>A	ENSP00000486498.1:p.Thr435Asn
NM_000447.2:c.1205C>A	NP_000438.2:p.Thr402Asn
NM_012486.2:c.1202C>A	NP_036618.2:p.Thr401Asn
XM_005273199.2:c.1205C>A	XP_005273256.1:p.Thr402Asn
XM_011544236.1:c.773C>A	XP_011542538.1:p.Thr258Asn
XR_949149.1:n.1939C>A
XM_005273199.4:c.1205C>A	XP_005273256.1:p.Thr402Asn
XM_017001835.1:c.1205C>A	XP_016857324.1:p.Thr402Asn
XM_017001836.1:c.1202C>A	XP_016857325.1:p.Thr401Asn
XR_001737316.2:n.1478-2283C>A
XR_001737317.2:n.1478-2283C>A
XR_001737318.2:n.1920C>A
XR_001737319.1:n.2263C>A
XR_001737320.1:n.2260C>A
XR_001737321.1:n.1755C>A
XR_949149.2:n.1917C>A
XR_949150.3:n.2136C>A
NM_000447.3:c.1205C>A MANE Select	NP_000438.2:p.Thr402Asn
NM_012486.3:c.1202C>A	NP_036618.2:p.Thr401Asn