Canonical Allele Identifier: CA2650788575

Gene: PSEN2

Linked Data

• gnomAD v4: 1-226896004-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226896004G>T , CM000663.2:g.226896004G>T	GRCh38
NC_000001.10:g.227083705G>T , CM000663.1:g.227083705G>T	GRCh37
NC_000001.9:g.225150328G>T	NCBI36
NG_007381.1:g.30433G>T
NG_012825.2:g.3469G>T
NG_007381.2:g.30821G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*425G>T	ENSP00000355741.2:n.*425G>T
ENST00000366782.6:c.*425G>T	ENSP00000355746.2:n.*425G>T
ENST00000366783.8:c.*425G>T MANE Select	ENSP00000355747.3:n.*425G>T
ENST00000471728.2:n.2410G>T
ENST00000524196.6:c.*425G>T	ENSP00000429036.2:n.*425G>T
ENST00000626989.3:c.*425G>T	ENSP00000486498.2:n.*425G>T
ENST00000676467.1:c.*1599G>T	ENSP00000504294.1:n.*1599G>T
ENST00000676747.1:c.1189-1716G>T	ENSP00000503244.1:n.1189-1716G>T
ENST00000676884.1:c.*425G>T	ENSP00000503200.1:n.*425G>T
ENST00000676888.1:c.*1113G>T	ENSP00000504483.1:n.*1113G>T
ENST00000676907.1:c.*1351G>T	ENSP00000504410.1:n.*1351G>T
ENST00000676945.1:c.1191+1879G>T	ENSP00000504433.1:n.1191+1879G>T
ENST00000677065.1:n.2333G>T
ENST00000677414.1:c.*425G>T	ENSP00000503116.1:n.*425G>T
ENST00000677529.1:n.3502G>T
ENST00000677596.1:c.*1994G>T	ENSP00000503618.1:n.*1994G>T
ENST00000677599.1:c.1191+1879G>T	ENSP00000503673.1:n.1191+1879G>T
ENST00000677748.1:n.4027G>T
ENST00000677880.1:c.*425G>T	ENSP00000503121.1:n.*425G>T
ENST00000678021.1:c.*1395G>T	ENSP00000504674.1:n.*1395G>T
ENST00000678233.1:c.*8+417G>T	ENSP00000504728.1:n.*8+417G>T
ENST00000678320.1:c.*425G>T	ENSP00000503680.1:n.*425G>T
ENST00000678655.1:c.1093-1716G>T	ENSP00000504230.1:n.1093-1716G>T
ENST00000678706.1:c.*1149G>T	ENSP00000503659.1:n.*1149G>T
ENST00000678776.1:c.*1909G>T	ENSP00000504624.1:n.*1909G>T
ENST00000678784.1:c.1073-1716G>T	ENSP00000504652.1:n.1073-1716G>T
ENST00000678820.1:c.1090-1716G>T	ENSP00000504138.1:n.1090-1716G>T
ENST00000678835.1:c.*757-1716G>T	ENSP00000504343.1:n.*757-1716G>T
ENST00000679088.1:c.*425G>T	ENSP00000504727.1:n.*425G>T
ENST00000679098.1:c.*8+417G>T	ENSP00000504303.1:n.*8+417G>T
ENST00000366782.5:c.*425G>T	ENSP00000355746.1:n.*425G>T
ENST00000366783.7:c.*425G>T	ENSP00000355747.3:n.*425G>T
ENST00000626989.2:c.1871G>T	ENSP00000486498.1:n.1871G>T
NM_000447.2:c.*425G>T	NP_000438.2:n.*425G>T
NM_012486.2:c.*425G>T	NP_036618.2:n.*425G>T
XM_005273199.2:c.*425G>T	XP_005273256.1:n.*425G>T
XM_011544236.1:c.*425G>T	XP_011542538.1:n.*425G>T
XM_005273199.4:c.*425G>T	XP_005273256.1:n.*425G>T
XM_017001835.1:c.*425G>T	XP_016857324.1:n.*425G>T
XM_017001836.1:c.*425G>T	XP_016857325.1:n.*425G>T
XR_001737316.2:n.1478-1716G>T
XR_001737317.2:n.1478-1716G>T
XR_001737318.2:n.2487G>T
XR_001737319.1:n.2830G>T
XR_001737320.1:n.2827G>T
XR_001737321.1:n.2322G>T
XR_949149.2:n.2484G>T
XR_949150.3:n.2703G>T
NM_000447.3:c.*425G>T MANE Select	NP_000438.2:n.*425G>T
NM_012486.3:c.*425G>T	NP_036618.2:n.*425G>T