Canonical Allele Identifier: CA345044084

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227081786A>T (hg19) ; chr1:g.226894085A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894085A>T , CM000663.2:g.226894085A>T	GRCh38
NC_000001.10:g.227081786A>T , CM000663.1:g.227081786A>T	GRCh37
NC_000001.9:g.225148409A>T	NCBI36
NG_007381.1:g.28514A>T
NG_012825.2:g.1550A>T
NG_007381.2:g.28902A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1151A>T	ENSP00000355741.2:p.Asp384Val
ENST00000366782.6:c.1151A>T	ENSP00000355746.2:p.Asp384Val
ENST00000366783.8:c.1151A>T MANE Select	ENSP00000355747.3:p.Asp384Val
ENST00000471728.2:n.1789A>T
ENST00000524196.6:c.1151A>T	ENSP00000429036.2:p.Asp384Val
ENST00000626989.3:c.1151A>T	ENSP00000486498.2:p.Asp384Val
ENST00000676467.1:c.*978A>T	ENSP00000504294.1:n.*978A>T
ENST00000676747.1:c.1148A>T	ENSP00000503244.1:p.Asp383Val
ENST00000676884.1:c.1151A>T	ENSP00000503200.1:p.Asp384Val
ENST00000676888.1:c.*492A>T	ENSP00000504483.1:n.*492A>T
ENST00000676907.1:c.*730A>T	ENSP00000504410.1:n.*730A>T
ENST00000676945.1:c.1151A>T	ENSP00000504433.1:p.Asp384Val
ENST00000677065.1:n.1712A>T
ENST00000677414.1:c.1151A>T	ENSP00000503116.1:p.Asp384Val
ENST00000677529.1:n.2881A>T
ENST00000677596.1:c.*1373A>T	ENSP00000503618.1:n.*1373A>T
ENST00000677599.1:c.1151A>T	ENSP00000503673.1:p.Asp384Val
ENST00000677748.1:n.3406A>T
ENST00000677880.1:c.716A>T	ENSP00000503121.1:p.Asp239Val
ENST00000678021.1:c.*774A>T	ENSP00000504674.1:n.*774A>T
ENST00000678233.1:c.1151A>T	ENSP00000504728.1:p.Asp384Val
ENST00000678320.1:c.1052A>T	ENSP00000503680.1:p.Asp351Val
ENST00000678655.1:c.1052A>T	ENSP00000504230.1:p.Asp351Val
ENST00000678706.1:c.*528A>T	ENSP00000503659.1:n.*528A>T
ENST00000678776.1:c.*1288A>T	ENSP00000504624.1:n.*1288A>T
ENST00000678784.1:c.1072+2241A>T	ENSP00000504652.1:n.1072+2241A>T
ENST00000678820.1:c.1049A>T	ENSP00000504138.1:p.Asp350Val
ENST00000678835.1:c.*756+2241A>T	ENSP00000504343.1:n.*756+2241A>T
ENST00000679088.1:c.1151A>T	ENSP00000504727.1:p.Asp384Val
ENST00000679098.1:c.1151A>T	ENSP00000504303.1:p.Asp384Val
ENST00000366782.5:c.1250A>T	ENSP00000355746.1:p.Asp417Val
ENST00000366783.7:c.1151A>T	ENSP00000355747.3:p.Asp384Val
ENST00000422240.6:c.1148A>T	ENSP00000403737.2:p.Asp383Val
ENST00000471728.1:n.409A>T
ENST00000472139.2:c.719A>T	ENSP00000427806.1:p.Asp240Val
ENST00000626989.2:c.1250A>T	ENSP00000486498.1:p.Asp417Val
NM_000447.2:c.1151A>T	NP_000438.2:p.Asp384Val
NM_012486.2:c.1148A>T	NP_036618.2:p.Asp383Val
XM_005273199.2:c.1151A>T	XP_005273256.1:p.Asp384Val
XM_011544236.1:c.719A>T	XP_011542538.1:p.Asp240Val
XR_949149.1:n.1885A>T
XM_005273199.4:c.1151A>T	XP_005273256.1:p.Asp384Val
XM_017001835.1:c.1151A>T	XP_016857324.1:p.Asp384Val
XM_017001836.1:c.1148A>T	XP_016857325.1:p.Asp383Val
XR_001737316.2:n.1477+2241A>T
XR_001737317.2:n.1477+2241A>T
XR_001737318.2:n.1866A>T
XR_001737319.1:n.2209A>T
XR_001737320.1:n.2206A>T
XR_001737321.1:n.1701A>T
XR_949149.2:n.1863A>T
XR_949150.3:n.2082A>T
NM_000447.3:c.1151A>T MANE Select	NP_000438.2:p.Asp384Val
NM_012486.3:c.1148A>T	NP_036618.2:p.Asp383Val