Canonical Allele Identifier: CA38626838

Gene: PSEN2

Linked Data

• dbSNP Id: rs1028051676
• gnomAD v3: 1-226895466-G-T
• gnomAD v4: 1-226895466-G-T
• MyVariant Identifiers: chr1:g.227083167G>T (hg19) ; chr1:g.226895466G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895466G>T , CM000663.2:g.226895466G>T	GRCh38
NC_000001.10:g.227083167G>T , CM000663.1:g.227083167G>T	GRCh37
NC_000001.9:g.225149790G>T	NCBI36
NG_007381.1:g.29895G>T
NG_012825.2:g.2931G>T
NG_007381.2:g.30283G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1234G>T	ENSP00000355741.2:p.Ala412Ser
ENST00000366782.6:c.1234G>T	ENSP00000355746.2:p.Ala412Ser
ENST00000366783.8:c.1234G>T MANE Select	ENSP00000355747.3:p.Ala412Ser
ENST00000471728.2:n.1872G>T
ENST00000524196.6:c.1234G>T	ENSP00000429036.2:p.Ala412Ser
ENST00000626989.3:c.1234G>T	ENSP00000486498.2:p.Ala412Ser
ENST00000676467.1:c.*1061G>T	ENSP00000504294.1:n.*1061G>T
ENST00000676747.1:c.1188+1341G>T	ENSP00000503244.1:n.1188+1341G>T
ENST00000676884.1:c.1234G>T	ENSP00000503200.1:p.Ala412Ser
ENST00000676888.1:c.*575G>T	ENSP00000504483.1:n.*575G>T
ENST00000676907.1:c.*813G>T	ENSP00000504410.1:n.*813G>T
ENST00000676945.1:c.1191+1341G>T	ENSP00000504433.1:n.1191+1341G>T
ENST00000677065.1:n.1795G>T
ENST00000677414.1:c.1234G>T	ENSP00000503116.1:p.Ala412Ser
ENST00000677529.1:n.2964G>T
ENST00000677596.1:c.*1456G>T	ENSP00000503618.1:n.*1456G>T
ENST00000677599.1:c.1191+1341G>T	ENSP00000503673.1:n.1191+1341G>T
ENST00000677748.1:n.3489G>T
ENST00000677880.1:c.799G>T	ENSP00000503121.1:p.Ala267Ser
ENST00000678021.1:c.*857G>T	ENSP00000504674.1:n.*857G>T
ENST00000678233.1:c.1234G>T	ENSP00000504728.1:p.Ala412Ser
ENST00000678320.1:c.1135G>T	ENSP00000503680.1:p.Ala379Ser
ENST00000678655.1:c.1092+1341G>T	ENSP00000504230.1:n.1092+1341G>T
ENST00000678706.1:c.*611G>T	ENSP00000503659.1:n.*611G>T
ENST00000678776.1:c.*1371G>T	ENSP00000504624.1:n.*1371G>T
ENST00000678784.1:c.1073-2254G>T	ENSP00000504652.1:n.1073-2254G>T
ENST00000678820.1:c.1089+1341G>T	ENSP00000504138.1:n.1089+1341G>T
ENST00000678835.1:c.*757-2254G>T	ENSP00000504343.1:n.*757-2254G>T
ENST00000679088.1:c.1234G>T	ENSP00000504727.1:p.Ala412Ser
ENST00000679098.1:c.1234G>T	ENSP00000504303.1:p.Ala412Ser
ENST00000366782.5:c.1333G>T	ENSP00000355746.1:p.Ala445Ser
ENST00000366783.7:c.1234G>T	ENSP00000355747.3:p.Ala412Ser
ENST00000422240.6:c.1231G>T	ENSP00000403737.2:p.Ala411Ser
ENST00000471728.1:n.492G>T
ENST00000472139.2:c.802G>T	ENSP00000427806.1:p.Ala268Ser
ENST00000626989.2:c.1333G>T	ENSP00000486498.1:p.Ala445Ser
NM_000447.2:c.1234G>T	NP_000438.2:p.Ala412Ser
NM_012486.2:c.1231G>T	NP_036618.2:p.Ala411Ser
XM_005273199.2:c.1234G>T	XP_005273256.1:p.Ala412Ser
XM_011544236.1:c.802G>T	XP_011542538.1:p.Ala268Ser
XR_949149.1:n.1968G>T
XM_005273199.4:c.1234G>T	XP_005273256.1:p.Ala412Ser
XM_017001835.1:c.1234G>T	XP_016857324.1:p.Ala412Ser
XM_017001836.1:c.1231G>T	XP_016857325.1:p.Ala411Ser
XR_001737316.2:n.1478-2254G>T
XR_001737317.2:n.1478-2254G>T
XR_001737318.2:n.1949G>T
XR_001737319.1:n.2292G>T
XR_001737320.1:n.2289G>T
XR_001737321.1:n.1784G>T
XR_949149.2:n.1946G>T
XR_949150.3:n.2165G>T
NM_000447.3:c.1234G>T MANE Select	NP_000438.2:p.Ala412Ser
NM_012486.3:c.1231G>T	NP_036618.2:p.Ala411Ser