Canonical Allele Identifier: CA345045727

Gene: PSEN2

Linked Data

• gnomAD v4: 1-226895565-C-G
• MyVariant Identifiers: chr1:g.227083266C>G (hg19) ; chr1:g.226895565C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895565C>G , CM000663.2:g.226895565C>G	GRCh38
NC_000001.10:g.227083266C>G , CM000663.1:g.227083266C>G	GRCh37
NC_000001.9:g.225149889C>G	NCBI36
NG_007381.1:g.29994C>G
NG_012825.2:g.3030C>G
NG_007381.2:g.30382C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1333C>G	ENSP00000355741.2:p.Gln445Glu
ENST00000366782.6:c.1333C>G	ENSP00000355746.2:p.Gln445Glu
ENST00000366783.8:c.1333C>G MANE Select	ENSP00000355747.3:p.Gln445Glu
ENST00000471728.2:n.1971C>G
ENST00000524196.6:c.1333C>G	ENSP00000429036.2:p.Gln445Glu
ENST00000626989.3:c.1333C>G	ENSP00000486498.2:p.Gln445Glu
ENST00000676467.1:c.*1160C>G	ENSP00000504294.1:n.*1160C>G
ENST00000676747.1:c.1188+1440C>G	ENSP00000503244.1:n.1188+1440C>G
ENST00000676884.1:c.1333C>G	ENSP00000503200.1:p.Gln445Glu
ENST00000676888.1:c.*674C>G	ENSP00000504483.1:n.*674C>G
ENST00000676907.1:c.*912C>G	ENSP00000504410.1:n.*912C>G
ENST00000676945.1:c.1191+1440C>G	ENSP00000504433.1:n.1191+1440C>G
ENST00000677065.1:n.1894C>G
ENST00000677414.1:c.1333C>G	ENSP00000503116.1:p.Gln445Glu
ENST00000677529.1:n.3063C>G
ENST00000677596.1:c.*1555C>G	ENSP00000503618.1:n.*1555C>G
ENST00000677599.1:c.1191+1440C>G	ENSP00000503673.1:n.1191+1440C>G
ENST00000677748.1:n.3588C>G
ENST00000677880.1:c.898C>G	ENSP00000503121.1:p.Gln300Glu
ENST00000678021.1:c.*956C>G	ENSP00000504674.1:n.*956C>G
ENST00000678233.1:c.1333C>G	ENSP00000504728.1:p.Gln445Glu
ENST00000678320.1:c.1234C>G	ENSP00000503680.1:p.Gln412Glu
ENST00000678655.1:c.1092+1440C>G	ENSP00000504230.1:n.1092+1440C>G
ENST00000678706.1:c.*710C>G	ENSP00000503659.1:n.*710C>G
ENST00000678776.1:c.*1470C>G	ENSP00000504624.1:n.*1470C>G
ENST00000678784.1:c.1073-2155C>G	ENSP00000504652.1:n.1073-2155C>G
ENST00000678820.1:c.1089+1440C>G	ENSP00000504138.1:n.1089+1440C>G
ENST00000678835.1:c.*757-2155C>G	ENSP00000504343.1:n.*757-2155C>G
ENST00000679088.1:c.1333C>G	ENSP00000504727.1:p.Gln445Glu
ENST00000679098.1:c.1333C>G	ENSP00000504303.1:p.Gln445Glu
ENST00000366782.5:c.1432C>G	ENSP00000355746.1:p.Gln478Glu
ENST00000366783.7:c.1333C>G	ENSP00000355747.3:p.Gln445Glu
ENST00000422240.6:c.1330C>G	ENSP00000403737.2:p.Gln444Glu
ENST00000472139.2:c.901C>G	ENSP00000427806.1:p.Gln301Glu
ENST00000626989.2:c.1432C>G	ENSP00000486498.1:p.Gln478Glu
NM_000447.2:c.1333C>G	NP_000438.2:p.Gln445Glu
NM_012486.2:c.1330C>G	NP_036618.2:p.Gln444Glu
XM_005273199.2:c.1333C>G	XP_005273256.1:p.Gln445Glu
XM_011544236.1:c.901C>G	XP_011542538.1:p.Gln301Glu
XM_005273199.4:c.1333C>G	XP_005273256.1:p.Gln445Glu
XM_017001835.1:c.1333C>G	XP_016857324.1:p.Gln445Glu
XM_017001836.1:c.1330C>G	XP_016857325.1:p.Gln444Glu
XR_001737316.2:n.1478-2155C>G
XR_001737317.2:n.1478-2155C>G
XR_001737318.2:n.2048C>G
XR_001737319.1:n.2391C>G
XR_001737320.1:n.2388C>G
XR_001737321.1:n.1883C>G
XR_949149.2:n.2045C>G
XR_949150.3:n.2264C>G
NM_000447.3:c.1333C>G MANE Select	NP_000438.2:p.Gln445Glu
NM_012486.3:c.1330C>G	NP_036618.2:p.Gln444Glu