Canonical Allele Identifier: CA2650783777

Gene: PSEN2

Linked Data

• gnomAD v4: 1-226870565-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226870565G>T , CM000663.2:g.226870565G>T	GRCh38
NC_000001.10:g.227058266G>T , CM000663.1:g.227058266G>T	GRCh37
NC_000001.9:g.225124889G>T	NCBI36
NG_007381.1:g.4994G>T
NG_007381.2:g.5382G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.-350+60G>T	ENSP00000355741.2:n.-350+60G>T
ENST00000524196.6:c.-350+60G>T	ENSP00000429036.2:n.-350+60G>T
ENST00000676884.1:c.-350+60G>T	ENSP00000503200.1:n.-350+60G>T
ENST00000676888.1:c.-350+60G>T	ENSP00000504483.1:n.-350+60G>T
ENST00000676907.1:c.-434G>T	ENSP00000504410.1:n.-434G>T
ENST00000676945.1:c.-434G>T	ENSP00000504433.1:n.-434G>T
ENST00000677529.1:n.5G>T
ENST00000677599.1:c.-434G>T	ENSP00000503673.1:n.-434G>T
ENST00000677748.1:n.5G>T
ENST00000678233.1:c.-434G>T	ENSP00000504728.1:n.-434G>T
ENST00000678320.1:c.-434G>T	ENSP00000503680.1:n.-434G>T
ENST00000678655.1:c.-434G>T	ENSP00000504230.1:n.-434G>T
ENST00000678706.1:c.-434G>T	ENSP00000503659.1:n.-434G>T
ENST00000678820.1:c.-434G>T	ENSP00000504138.1:n.-434G>T
ENST00000678835.1:c.-434G>T	ENSP00000504343.1:n.-434G>T
ENST00000679098.1:c.-434G>T	ENSP00000504303.1:n.-434G>T
ENST00000366783.7:c.-434G>T	ENSP00000355747.3:n.-434G>T
ENST00000524196.5:c.-350+60G>T	ENSP00000429036.1:n.-350+60G>T