Canonical Allele Identifier: CA2650788590

Gene: PSEN2

Linked Data

• gnomAD v4: 1-226896029-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226896029T>C , CM000663.2:g.226896029T>C	GRCh38
NC_000001.10:g.227083730T>C , CM000663.1:g.227083730T>C	GRCh37
NC_000001.9:g.225150353T>C	NCBI36
NG_007381.1:g.30458T>C
NG_012825.2:g.3494T>C
NG_007381.2:g.30846T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*450T>C	ENSP00000355741.2:n.*450T>C
ENST00000366782.6:c.*450T>C	ENSP00000355746.2:n.*450T>C
ENST00000366783.8:c.*450T>C MANE Select	ENSP00000355747.3:n.*450T>C
ENST00000471728.2:n.2435T>C
ENST00000524196.6:c.*450T>C	ENSP00000429036.2:n.*450T>C
ENST00000626989.3:c.*450T>C	ENSP00000486498.2:n.*450T>C
ENST00000676467.1:c.*1624T>C	ENSP00000504294.1:n.*1624T>C
ENST00000676747.1:c.1189-1691T>C	ENSP00000503244.1:n.1189-1691T>C
ENST00000676884.1:c.*450T>C	ENSP00000503200.1:n.*450T>C
ENST00000676888.1:c.*1138T>C	ENSP00000504483.1:n.*1138T>C
ENST00000676907.1:c.*1376T>C	ENSP00000504410.1:n.*1376T>C
ENST00000676945.1:c.1191+1904T>C	ENSP00000504433.1:n.1191+1904T>C
ENST00000677065.1:n.2358T>C
ENST00000677414.1:c.*450T>C	ENSP00000503116.1:n.*450T>C
ENST00000677529.1:n.3527T>C
ENST00000677596.1:c.*2019T>C	ENSP00000503618.1:n.*2019T>C
ENST00000677599.1:c.1191+1904T>C	ENSP00000503673.1:n.1191+1904T>C
ENST00000677748.1:n.4052T>C
ENST00000677880.1:c.*450T>C	ENSP00000503121.1:n.*450T>C
ENST00000678021.1:c.*1420T>C	ENSP00000504674.1:n.*1420T>C
ENST00000678233.1:c.*8+442T>C	ENSP00000504728.1:n.*8+442T>C
ENST00000678320.1:c.*450T>C	ENSP00000503680.1:n.*450T>C
ENST00000678655.1:c.1093-1691T>C	ENSP00000504230.1:n.1093-1691T>C
ENST00000678706.1:c.*1174T>C	ENSP00000503659.1:n.*1174T>C
ENST00000678776.1:c.*1934T>C	ENSP00000504624.1:n.*1934T>C
ENST00000678784.1:c.1073-1691T>C	ENSP00000504652.1:n.1073-1691T>C
ENST00000678820.1:c.1090-1691T>C	ENSP00000504138.1:n.1090-1691T>C
ENST00000678835.1:c.*757-1691T>C	ENSP00000504343.1:n.*757-1691T>C
ENST00000679088.1:c.*450T>C	ENSP00000504727.1:n.*450T>C
ENST00000679098.1:c.*8+442T>C	ENSP00000504303.1:n.*8+442T>C
ENST00000366782.5:c.*450T>C	ENSP00000355746.1:n.*450T>C
ENST00000366783.7:c.*450T>C	ENSP00000355747.3:n.*450T>C
ENST00000626989.2:c.1896T>C	ENSP00000486498.1:n.1896T>C
NM_000447.2:c.*450T>C	NP_000438.2:n.*450T>C
NM_012486.2:c.*450T>C	NP_036618.2:n.*450T>C
XM_005273199.2:c.*450T>C	XP_005273256.1:n.*450T>C
XM_011544236.1:c.*450T>C	XP_011542538.1:n.*450T>C
XM_005273199.4:c.*450T>C	XP_005273256.1:n.*450T>C
XM_017001835.1:c.*450T>C	XP_016857324.1:n.*450T>C
XM_017001836.1:c.*450T>C	XP_016857325.1:n.*450T>C
XR_001737316.2:n.1478-1691T>C
XR_001737317.2:n.1478-1691T>C
XR_001737318.2:n.2512T>C
XR_001737319.1:n.2855T>C
XR_001737320.1:n.2852T>C
XR_001737321.1:n.2347T>C
XR_949149.2:n.2509T>C
XR_949150.3:n.2728T>C
NM_000447.3:c.*450T>C MANE Select	NP_000438.2:n.*450T>C
NM_012486.3:c.*450T>C	NP_036618.2:n.*450T>C