Canonical Allele Identifier: CA345044983

Gene: PSEN2

Linked Data

• gnomAD v4: 1-226895475-G-T
• MyVariant Identifiers: chr1:g.227083176G>T (hg19) ; chr1:g.226895475G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895475G>T , CM000663.2:g.226895475G>T	GRCh38
NC_000001.10:g.227083176G>T , CM000663.1:g.227083176G>T	GRCh37
NC_000001.9:g.225149799G>T	NCBI36
NG_007381.1:g.29904G>T
NG_012825.2:g.2940G>T
NG_007381.2:g.30292G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1243G>T	ENSP00000355741.2:p.Ala415Ser
ENST00000366782.6:c.1243G>T	ENSP00000355746.2:p.Ala415Ser
ENST00000366783.8:c.1243G>T MANE Select	ENSP00000355747.3:p.Ala415Ser
ENST00000471728.2:n.1881G>T
ENST00000524196.6:c.1243G>T	ENSP00000429036.2:p.Ala415Ser
ENST00000626989.3:c.1243G>T	ENSP00000486498.2:p.Ala415Ser
ENST00000676467.1:c.*1070G>T	ENSP00000504294.1:n.*1070G>T
ENST00000676747.1:c.1188+1350G>T	ENSP00000503244.1:n.1188+1350G>T
ENST00000676884.1:c.1243G>T	ENSP00000503200.1:p.Ala415Ser
ENST00000676888.1:c.*584G>T	ENSP00000504483.1:n.*584G>T
ENST00000676907.1:c.*822G>T	ENSP00000504410.1:n.*822G>T
ENST00000676945.1:c.1191+1350G>T	ENSP00000504433.1:n.1191+1350G>T
ENST00000677065.1:n.1804G>T
ENST00000677414.1:c.1243G>T	ENSP00000503116.1:p.Ala415Ser
ENST00000677529.1:n.2973G>T
ENST00000677596.1:c.*1465G>T	ENSP00000503618.1:n.*1465G>T
ENST00000677599.1:c.1191+1350G>T	ENSP00000503673.1:n.1191+1350G>T
ENST00000677748.1:n.3498G>T
ENST00000677880.1:c.808G>T	ENSP00000503121.1:p.Ala270Ser
ENST00000678021.1:c.*866G>T	ENSP00000504674.1:n.*866G>T
ENST00000678233.1:c.1243G>T	ENSP00000504728.1:p.Ala415Ser
ENST00000678320.1:c.1144G>T	ENSP00000503680.1:p.Ala382Ser
ENST00000678655.1:c.1092+1350G>T	ENSP00000504230.1:n.1092+1350G>T
ENST00000678706.1:c.*620G>T	ENSP00000503659.1:n.*620G>T
ENST00000678776.1:c.*1380G>T	ENSP00000504624.1:n.*1380G>T
ENST00000678784.1:c.1073-2245G>T	ENSP00000504652.1:n.1073-2245G>T
ENST00000678820.1:c.1089+1350G>T	ENSP00000504138.1:n.1089+1350G>T
ENST00000678835.1:c.*757-2245G>T	ENSP00000504343.1:n.*757-2245G>T
ENST00000679088.1:c.1243G>T	ENSP00000504727.1:p.Ala415Ser
ENST00000679098.1:c.1243G>T	ENSP00000504303.1:p.Ala415Ser
ENST00000366782.5:c.1342G>T	ENSP00000355746.1:p.Ala448Ser
ENST00000366783.7:c.1243G>T	ENSP00000355747.3:p.Ala415Ser
ENST00000422240.6:c.1240G>T	ENSP00000403737.2:p.Ala414Ser
ENST00000471728.1:n.501G>T
ENST00000472139.2:c.811G>T	ENSP00000427806.1:p.Ala271Ser
ENST00000626989.2:c.1342G>T	ENSP00000486498.1:p.Ala448Ser
NM_000447.2:c.1243G>T	NP_000438.2:p.Ala415Ser
NM_012486.2:c.1240G>T	NP_036618.2:p.Ala414Ser
XM_005273199.2:c.1243G>T	XP_005273256.1:p.Ala415Ser
XM_011544236.1:c.811G>T	XP_011542538.1:p.Ala271Ser
XR_949149.1:n.1977G>T
XM_005273199.4:c.1243G>T	XP_005273256.1:p.Ala415Ser
XM_017001835.1:c.1243G>T	XP_016857324.1:p.Ala415Ser
XM_017001836.1:c.1240G>T	XP_016857325.1:p.Ala414Ser
XR_001737316.2:n.1478-2245G>T
XR_001737317.2:n.1478-2245G>T
XR_001737318.2:n.1958G>T
XR_001737319.1:n.2301G>T
XR_001737320.1:n.2298G>T
XR_001737321.1:n.1793G>T
XR_949149.2:n.1955G>T
XR_949150.3:n.2174G>T
NM_000447.3:c.1243G>T MANE Select	NP_000438.2:p.Ala415Ser
NM_012486.3:c.1240G>T	NP_036618.2:p.Ala414Ser