Canonical Allele Identifier: CA38627520

Gene: PSEN2

Linked Data

• dbSNP Id: rs199579988
• gnomAD v4: 1-226896033-A-T
• MyVariant Identifiers: chr1:g.227083734A>T (hg19) ; chr1:g.226896033A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226896033A>T , CM000663.2:g.226896033A>T	GRCh38
NC_000001.10:g.227083734A>T , CM000663.1:g.227083734A>T	GRCh37
NC_000001.9:g.225150357A>T	NCBI36
NG_007381.1:g.30462A>T
NG_012825.2:g.3498A>T
NG_007381.2:g.30850A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*454A>T	ENSP00000355741.2:n.*454A>T
ENST00000366782.6:c.*454A>T	ENSP00000355746.2:n.*454A>T
ENST00000366783.8:c.*454A>T MANE Select	ENSP00000355747.3:n.*454A>T
ENST00000471728.2:n.2439A>T
ENST00000524196.6:c.*454A>T	ENSP00000429036.2:n.*454A>T
ENST00000626989.3:c.*454A>T	ENSP00000486498.2:n.*454A>T
ENST00000676467.1:c.*1628A>T	ENSP00000504294.1:n.*1628A>T
ENST00000676747.1:c.1189-1687A>T	ENSP00000503244.1:n.1189-1687A>T
ENST00000676884.1:c.*454A>T	ENSP00000503200.1:n.*454A>T
ENST00000676888.1:c.*1142A>T	ENSP00000504483.1:n.*1142A>T
ENST00000676907.1:c.*1380A>T	ENSP00000504410.1:n.*1380A>T
ENST00000676945.1:c.1191+1908A>T	ENSP00000504433.1:n.1191+1908A>T
ENST00000677065.1:n.2362A>T
ENST00000677414.1:c.*454A>T	ENSP00000503116.1:n.*454A>T
ENST00000677529.1:n.3531A>T
ENST00000677596.1:c.*2023A>T	ENSP00000503618.1:n.*2023A>T
ENST00000677599.1:c.1191+1908A>T	ENSP00000503673.1:n.1191+1908A>T
ENST00000677748.1:n.4056A>T
ENST00000677880.1:c.*454A>T	ENSP00000503121.1:n.*454A>T
ENST00000678021.1:c.*1424A>T	ENSP00000504674.1:n.*1424A>T
ENST00000678233.1:c.*8+446A>T	ENSP00000504728.1:n.*8+446A>T
ENST00000678320.1:c.*454A>T	ENSP00000503680.1:n.*454A>T
ENST00000678655.1:c.1093-1687A>T	ENSP00000504230.1:n.1093-1687A>T
ENST00000678706.1:c.*1178A>T	ENSP00000503659.1:n.*1178A>T
ENST00000678776.1:c.*1938A>T	ENSP00000504624.1:n.*1938A>T
ENST00000678784.1:c.1073-1687A>T	ENSP00000504652.1:n.1073-1687A>T
ENST00000678820.1:c.1090-1687A>T	ENSP00000504138.1:n.1090-1687A>T
ENST00000678835.1:c.*757-1687A>T	ENSP00000504343.1:n.*757-1687A>T
ENST00000679088.1:c.*454A>T	ENSP00000504727.1:n.*454A>T
ENST00000679098.1:c.*8+446A>T	ENSP00000504303.1:n.*8+446A>T
ENST00000366782.5:c.*454A>T	ENSP00000355746.1:n.*454A>T
ENST00000366783.7:c.*454A>T	ENSP00000355747.3:n.*454A>T
ENST00000626989.2:c.1900A>T	ENSP00000486498.1:n.1900A>T
NM_000447.2:c.*454A>T	NP_000438.2:n.*454A>T
NM_012486.2:c.*454A>T	NP_036618.2:n.*454A>T
XM_005273199.2:c.*454A>T	XP_005273256.1:n.*454A>T
XM_011544236.1:c.*454A>T	XP_011542538.1:n.*454A>T
XM_005273199.4:c.*454A>T	XP_005273256.1:n.*454A>T
XM_017001835.1:c.*454A>T	XP_016857324.1:n.*454A>T
XM_017001836.1:c.*454A>T	XP_016857325.1:n.*454A>T
XR_001737316.2:n.1478-1687A>T
XR_001737317.2:n.1478-1687A>T
XR_001737318.2:n.2516A>T
XR_001737319.1:n.2859A>T
XR_001737320.1:n.2856A>T
XR_001737321.1:n.2351A>T
XR_949149.2:n.2513A>T
XR_949150.3:n.2732A>T
NM_000447.3:c.*454A>T MANE Select	NP_000438.2:n.*454A>T
NM_012486.3:c.*454A>T	NP_036618.2:n.*454A>T