Canonical Allele Identifier: CA732356632

Gene: PSEN2

Linked Data

• dbSNP Id: rs1435599878
• gnomAD v3: 1-226895901-G-A
• gnomAD v4: 1-226895901-G-A
• MyVariant Identifiers: chr1:g.227083602G>A (hg19) ; chr1:g.226895901G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895901G>A , CM000663.2:g.226895901G>A	GRCh38
NC_000001.10:g.227083602G>A , CM000663.1:g.227083602G>A	GRCh37
NC_000001.9:g.225150225G>A	NCBI36
NG_007381.1:g.30330G>A
NG_012825.2:g.3366G>A
NG_007381.2:g.30718G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*322G>A	ENSP00000355741.2:n.*322G>A
ENST00000366782.6:c.*322G>A	ENSP00000355746.2:n.*322G>A
ENST00000366783.8:c.*322G>A MANE Select	ENSP00000355747.3:n.*322G>A
ENST00000471728.2:n.2307G>A
ENST00000524196.6:c.*322G>A	ENSP00000429036.2:n.*322G>A
ENST00000626989.3:c.*322G>A	ENSP00000486498.2:n.*322G>A
ENST00000676467.1:c.*1496G>A	ENSP00000504294.1:n.*1496G>A
ENST00000676747.1:c.1188+1776G>A	ENSP00000503244.1:n.1188+1776G>A
ENST00000676884.1:c.*322G>A	ENSP00000503200.1:n.*322G>A
ENST00000676888.1:c.*1010G>A	ENSP00000504483.1:n.*1010G>A
ENST00000676907.1:c.*1248G>A	ENSP00000504410.1:n.*1248G>A
ENST00000676945.1:c.1191+1776G>A	ENSP00000504433.1:n.1191+1776G>A
ENST00000677065.1:n.2230G>A
ENST00000677414.1:c.*322G>A	ENSP00000503116.1:n.*322G>A
ENST00000677529.1:n.3399G>A
ENST00000677596.1:c.*1891G>A	ENSP00000503618.1:n.*1891G>A
ENST00000677599.1:c.1191+1776G>A	ENSP00000503673.1:n.1191+1776G>A
ENST00000677748.1:n.3924G>A
ENST00000677880.1:c.*322G>A	ENSP00000503121.1:n.*322G>A
ENST00000678021.1:c.*1292G>A	ENSP00000504674.1:n.*1292G>A
ENST00000678233.1:c.*8+314G>A	ENSP00000504728.1:n.*8+314G>A
ENST00000678320.1:c.*322G>A	ENSP00000503680.1:n.*322G>A
ENST00000678655.1:c.1092+1776G>A	ENSP00000504230.1:n.1092+1776G>A
ENST00000678706.1:c.*1046G>A	ENSP00000503659.1:n.*1046G>A
ENST00000678776.1:c.*1806G>A	ENSP00000504624.1:n.*1806G>A
ENST00000678784.1:c.1073-1819G>A	ENSP00000504652.1:n.1073-1819G>A
ENST00000678820.1:c.1089+1776G>A	ENSP00000504138.1:n.1089+1776G>A
ENST00000678835.1:c.*757-1819G>A	ENSP00000504343.1:n.*757-1819G>A
ENST00000679088.1:c.*322G>A	ENSP00000504727.1:n.*322G>A
ENST00000679098.1:c.*8+314G>A	ENSP00000504303.1:n.*8+314G>A
ENST00000366782.5:c.*322G>A	ENSP00000355746.1:n.*322G>A
ENST00000366783.7:c.*322G>A	ENSP00000355747.3:n.*322G>A
ENST00000626989.2:c.1768G>A	ENSP00000486498.1:n.1768G>A
NM_000447.2:c.*322G>A	NP_000438.2:n.*322G>A
NM_012486.2:c.*322G>A	NP_036618.2:n.*322G>A
XM_005273199.2:c.*322G>A	XP_005273256.1:n.*322G>A
XM_011544236.1:c.*322G>A	XP_011542538.1:n.*322G>A
XM_005273199.4:c.*322G>A	XP_005273256.1:n.*322G>A
XM_017001835.1:c.*322G>A	XP_016857324.1:n.*322G>A
XM_017001836.1:c.*322G>A	XP_016857325.1:n.*322G>A
XR_001737316.2:n.1478-1819G>A
XR_001737317.2:n.1478-1819G>A
XR_001737318.2:n.2384G>A
XR_001737319.1:n.2727G>A
XR_001737320.1:n.2724G>A
XR_001737321.1:n.2219G>A
XR_949149.2:n.2381G>A
XR_949150.3:n.2600G>A
NM_000447.3:c.*322G>A MANE Select	NP_000438.2:n.*322G>A
NM_012486.3:c.*322G>A	NP_036618.2:n.*322G>A