Canonical Allele Identifier: CA2650788566

Gene: PSEN2

Linked Data

• dbSNP Id: rs2102699949
• gnomAD v4: 1-226895983-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895983T>C , CM000663.2:g.226895983T>C	GRCh38
NC_000001.10:g.227083684T>C , CM000663.1:g.227083684T>C	GRCh37
NC_000001.9:g.225150307T>C	NCBI36
NG_007381.1:g.30412T>C
NG_012825.2:g.3448T>C
NG_007381.2:g.30800T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*404T>C	ENSP00000355741.2:n.*404T>C
ENST00000366782.6:c.*404T>C	ENSP00000355746.2:n.*404T>C
ENST00000366783.8:c.*404T>C MANE Select	ENSP00000355747.3:n.*404T>C
ENST00000471728.2:n.2389T>C
ENST00000524196.6:c.*404T>C	ENSP00000429036.2:n.*404T>C
ENST00000626989.3:c.*404T>C	ENSP00000486498.2:n.*404T>C
ENST00000676467.1:c.*1578T>C	ENSP00000504294.1:n.*1578T>C
ENST00000676747.1:c.1189-1737T>C	ENSP00000503244.1:n.1189-1737T>C
ENST00000676884.1:c.*404T>C	ENSP00000503200.1:n.*404T>C
ENST00000676888.1:c.*1092T>C	ENSP00000504483.1:n.*1092T>C
ENST00000676907.1:c.*1330T>C	ENSP00000504410.1:n.*1330T>C
ENST00000676945.1:c.1191+1858T>C	ENSP00000504433.1:n.1191+1858T>C
ENST00000677065.1:n.2312T>C
ENST00000677414.1:c.*404T>C	ENSP00000503116.1:n.*404T>C
ENST00000677529.1:n.3481T>C
ENST00000677596.1:c.*1973T>C	ENSP00000503618.1:n.*1973T>C
ENST00000677599.1:c.1191+1858T>C	ENSP00000503673.1:n.1191+1858T>C
ENST00000677748.1:n.4006T>C
ENST00000677880.1:c.*404T>C	ENSP00000503121.1:n.*404T>C
ENST00000678021.1:c.*1374T>C	ENSP00000504674.1:n.*1374T>C
ENST00000678233.1:c.*8+396T>C	ENSP00000504728.1:n.*8+396T>C
ENST00000678320.1:c.*404T>C	ENSP00000503680.1:n.*404T>C
ENST00000678655.1:c.1093-1737T>C	ENSP00000504230.1:n.1093-1737T>C
ENST00000678706.1:c.*1128T>C	ENSP00000503659.1:n.*1128T>C
ENST00000678776.1:c.*1888T>C	ENSP00000504624.1:n.*1888T>C
ENST00000678784.1:c.1073-1737T>C	ENSP00000504652.1:n.1073-1737T>C
ENST00000678820.1:c.1090-1737T>C	ENSP00000504138.1:n.1090-1737T>C
ENST00000678835.1:c.*757-1737T>C	ENSP00000504343.1:n.*757-1737T>C
ENST00000679088.1:c.*404T>C	ENSP00000504727.1:n.*404T>C
ENST00000679098.1:c.*8+396T>C	ENSP00000504303.1:n.*8+396T>C
ENST00000366782.5:c.*404T>C	ENSP00000355746.1:n.*404T>C
ENST00000366783.7:c.*404T>C	ENSP00000355747.3:n.*404T>C
ENST00000626989.2:c.1850T>C	ENSP00000486498.1:n.1850T>C
NM_000447.2:c.*404T>C	NP_000438.2:n.*404T>C
NM_012486.2:c.*404T>C	NP_036618.2:n.*404T>C
XM_005273199.2:c.*404T>C	XP_005273256.1:n.*404T>C
XM_011544236.1:c.*404T>C	XP_011542538.1:n.*404T>C
XM_005273199.4:c.*404T>C	XP_005273256.1:n.*404T>C
XM_017001835.1:c.*404T>C	XP_016857324.1:n.*404T>C
XM_017001836.1:c.*404T>C	XP_016857325.1:n.*404T>C
XR_001737316.2:n.1478-1737T>C
XR_001737317.2:n.1478-1737T>C
XR_001737318.2:n.2466T>C
XR_001737319.1:n.2809T>C
XR_001737320.1:n.2806T>C
XR_001737321.1:n.2301T>C
XR_949149.2:n.2463T>C
XR_949150.3:n.2682T>C
NM_000447.3:c.*404T>C MANE Select	NP_000438.2:n.*404T>C
NM_012486.3:c.*404T>C	NP_036618.2:n.*404T>C