Canonical Allele Identifier: CA2650784301

Gene: PSEN2

Linked Data

• gnomAD v4: 1-226871271-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226871271G>A , CM000663.2:g.226871271G>A	GRCh38
NC_000001.10:g.227058972G>A , CM000663.1:g.227058972G>A	GRCh37
NC_000001.9:g.225125595G>A	NCBI36
NG_007381.1:g.5700G>A
NG_007381.2:g.6088G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.-340G>A	ENSP00000355741.2:n.-340G>A
ENST00000366782.6:c.-596G>A	ENSP00000355746.2:n.-596G>A
ENST00000366783.8:c.-340G>A MANE Select	ENSP00000355747.3:n.-340G>A
ENST00000524196.6:c.-340G>A	ENSP00000429036.2:n.-340G>A
ENST00000676467.1:c.-340G>A	ENSP00000504294.1:n.-340G>A
ENST00000676747.1:c.-207+622G>A	ENSP00000503244.1:n.-207+622G>A
ENST00000676840.1:c.-340G>A	ENSP00000504318.1:n.-340G>A
ENST00000676884.1:c.-340G>A	ENSP00000503200.1:n.-340G>A
ENST00000676888.1:c.-340G>A	ENSP00000504483.1:n.-340G>A
ENST00000676907.1:c.-340G>A	ENSP00000504410.1:n.-340G>A
ENST00000676945.1:c.-340G>A	ENSP00000504433.1:n.-340G>A
ENST00000677414.1:c.-207+622G>A	ENSP00000503116.1:n.-207+622G>A
ENST00000677529.1:n.99G>A
ENST00000677596.1:c.-340G>A	ENSP00000503618.1:n.-340G>A
ENST00000677599.1:c.-340G>A	ENSP00000503673.1:n.-340G>A
ENST00000677748.1:n.99G>A
ENST00000677880.1:c.-473G>A	ENSP00000503121.1:n.-473G>A
ENST00000678021.1:c.-340G>A	ENSP00000504674.1:n.-340G>A
ENST00000678233.1:c.-340G>A	ENSP00000504728.1:n.-340G>A
ENST00000678320.1:c.-340G>A	ENSP00000503680.1:n.-340G>A
ENST00000678655.1:c.-340G>A	ENSP00000504230.1:n.-340G>A
ENST00000678706.1:c.-340G>A	ENSP00000503659.1:n.-340G>A
ENST00000678776.1:c.-340G>A	ENSP00000504624.1:n.-340G>A
ENST00000678784.1:c.-340G>A	ENSP00000504652.1:n.-340G>A
ENST00000678820.1:c.-340G>A	ENSP00000504138.1:n.-340G>A
ENST00000678835.1:c.-340G>A	ENSP00000504343.1:n.-340G>A
ENST00000679088.1:c.-1788G>A	ENSP00000504727.1:n.-1788G>A
ENST00000679098.1:c.-340G>A	ENSP00000504303.1:n.-340G>A
ENST00000366782.5:c.-497G>A	ENSP00000355746.1:n.-497G>A
ENST00000366783.7:c.-340G>A	ENSP00000355747.3:n.-340G>A
ENST00000422240.6:c.-340G>A	ENSP00000403737.2:n.-340G>A
ENST00000460775.5:c.-341G>A	ENSP00000427912.1:n.-341G>A
ENST00000495488.5:c.-207+622G>A	ENSP00000429682.1:n.-207+622G>A
ENST00000521431.1:n.409G>A
ENST00000524196.5:c.-340G>A	ENSP00000429036.1:n.-340G>A
NM_000447.2:c.-340G>A	NP_000438.2:n.-340G>A
NM_012486.2:c.-340G>A	NP_036618.2:n.-340G>A
XM_005273199.2:c.-207+622G>A	XP_005273256.1:n.-207+622G>A
XM_011544236.1:c.-396G>A	XP_011542538.1:n.-396G>A
XR_949149.1:n.88G>A
XR_949150.1:n.88G>A
XM_005273199.4:c.-207+622G>A	XP_005273256.1:n.-207+622G>A
XM_017001835.1:c.-340G>A	XP_016857324.1:n.-340G>A
XM_017001836.1:c.-207+622G>A	XP_016857325.1:n.-207+622G>A
XR_001737316.2:n.66G>A
XR_001737317.2:n.66G>A
XR_001737318.2:n.66G>A
XR_001737319.1:n.409G>A
XR_001737320.1:n.409G>A
XR_001737321.1:n.34+622G>A
XR_949149.2:n.66G>A
XR_949150.3:n.66G>A
NM_000447.3:c.-340G>A MANE Select	NP_000438.2:n.-340G>A
NM_012486.3:c.-340G>A	NP_036618.2:n.-340G>A