Canonical Allele Identifier: CA732356510

Gene: PSEN2

Linked Data

• dbSNP Id: rs1229318096
• gnomAD v3: 1-226895698-C-T
• gnomAD v4: 1-226895698-C-T
• MyVariant Identifiers: chr1:g.227083399C>T (hg19) ; chr1:g.226895698C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895698C>T , CM000663.2:g.226895698C>T	GRCh38
NC_000001.10:g.227083399C>T , CM000663.1:g.227083399C>T	GRCh37
NC_000001.9:g.225150022C>T	NCBI36
NG_007381.1:g.30127C>T
NG_012825.2:g.3163C>T
NG_007381.2:g.30515C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*119C>T	ENSP00000355741.2:n.*119C>T
ENST00000366782.6:c.*119C>T	ENSP00000355746.2:n.*119C>T
ENST00000366783.8:c.*119C>T MANE Select	ENSP00000355747.3:n.*119C>T
ENST00000471728.2:n.2104C>T
ENST00000524196.6:c.*119C>T	ENSP00000429036.2:n.*119C>T
ENST00000626989.3:c.*119C>T	ENSP00000486498.2:n.*119C>T
ENST00000676467.1:c.*1293C>T	ENSP00000504294.1:n.*1293C>T
ENST00000676747.1:c.1188+1573C>T	ENSP00000503244.1:n.1188+1573C>T
ENST00000676884.1:c.*119C>T	ENSP00000503200.1:n.*119C>T
ENST00000676888.1:c.*807C>T	ENSP00000504483.1:n.*807C>T
ENST00000676907.1:c.*1045C>T	ENSP00000504410.1:n.*1045C>T
ENST00000676945.1:c.1191+1573C>T	ENSP00000504433.1:n.1191+1573C>T
ENST00000677065.1:n.2027C>T
ENST00000677414.1:c.*119C>T	ENSP00000503116.1:n.*119C>T
ENST00000677529.1:n.3196C>T
ENST00000677596.1:c.*1688C>T	ENSP00000503618.1:n.*1688C>T
ENST00000677599.1:c.1191+1573C>T	ENSP00000503673.1:n.1191+1573C>T
ENST00000677748.1:n.3721C>T
ENST00000677880.1:c.*119C>T	ENSP00000503121.1:n.*119C>T
ENST00000678021.1:c.*1089C>T	ENSP00000504674.1:n.*1089C>T
ENST00000678233.1:c.*8+111C>T	ENSP00000504728.1:n.*8+111C>T
ENST00000678320.1:c.*119C>T	ENSP00000503680.1:n.*119C>T
ENST00000678655.1:c.1092+1573C>T	ENSP00000504230.1:n.1092+1573C>T
ENST00000678706.1:c.*843C>T	ENSP00000503659.1:n.*843C>T
ENST00000678776.1:c.*1603C>T	ENSP00000504624.1:n.*1603C>T
ENST00000678784.1:c.1073-2022C>T	ENSP00000504652.1:n.1073-2022C>T
ENST00000678820.1:c.1089+1573C>T	ENSP00000504138.1:n.1089+1573C>T
ENST00000678835.1:c.*757-2022C>T	ENSP00000504343.1:n.*757-2022C>T
ENST00000679088.1:c.*119C>T	ENSP00000504727.1:n.*119C>T
ENST00000679098.1:c.*8+111C>T	ENSP00000504303.1:n.*8+111C>T
ENST00000366782.5:c.*119C>T	ENSP00000355746.1:n.*119C>T
ENST00000366783.7:c.*119C>T	ENSP00000355747.3:n.*119C>T
ENST00000422240.6:c.*119C>T	ENSP00000403737.2:n.*119C>T
ENST00000626989.2:c.1565C>T	ENSP00000486498.1:n.1565C>T
NM_000447.2:c.*119C>T	NP_000438.2:n.*119C>T
NM_012486.2:c.*119C>T	NP_036618.2:n.*119C>T
XM_005273199.2:c.*119C>T	XP_005273256.1:n.*119C>T
XM_011544236.1:c.*119C>T	XP_011542538.1:n.*119C>T
XM_005273199.4:c.*119C>T	XP_005273256.1:n.*119C>T
XM_017001835.1:c.*119C>T	XP_016857324.1:n.*119C>T
XM_017001836.1:c.*119C>T	XP_016857325.1:n.*119C>T
XR_001737316.2:n.1478-2022C>T
XR_001737317.2:n.1478-2022C>T
XR_001737318.2:n.2181C>T
XR_001737319.1:n.2524C>T
XR_001737320.1:n.2521C>T
XR_001737321.1:n.2016C>T
XR_949149.2:n.2178C>T
XR_949150.3:n.2397C>T
NM_000447.3:c.*119C>T MANE Select	NP_000438.2:n.*119C>T
NM_012486.3:c.*119C>T	NP_036618.2:n.*119C>T