Canonical Allele Identifier: CA345045223

Gene: PSEN2

Linked Data

• dbSNP Id: rs1322531425
• gnomAD v2: 1-227083204-T-C
• gnomAD v4: 1-226895503-T-C
• MyVariant Identifiers: chr1:g.227083204T>C (hg19) ; chr1:g.226895503T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895503T>C , CM000663.2:g.226895503T>C	GRCh38
NC_000001.10:g.227083204T>C , CM000663.1:g.227083204T>C	GRCh37
NC_000001.9:g.225149827T>C	NCBI36
NG_007381.1:g.29932T>C
NG_012825.2:g.2968T>C
NG_007381.2:g.30320T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1271T>C	ENSP00000355741.2:p.Leu424Pro
ENST00000366782.6:c.1271T>C	ENSP00000355746.2:p.Leu424Pro
ENST00000366783.8:c.1271T>C MANE Select	ENSP00000355747.3:p.Leu424Pro
ENST00000471728.2:n.1909T>C
ENST00000524196.6:c.1271T>C	ENSP00000429036.2:p.Leu424Pro
ENST00000626989.3:c.1271T>C	ENSP00000486498.2:p.Leu424Pro
ENST00000676467.1:c.*1098T>C	ENSP00000504294.1:n.*1098T>C
ENST00000676747.1:c.1188+1378T>C	ENSP00000503244.1:n.1188+1378T>C
ENST00000676884.1:c.1271T>C	ENSP00000503200.1:p.Leu424Pro
ENST00000676888.1:c.*612T>C	ENSP00000504483.1:n.*612T>C
ENST00000676907.1:c.*850T>C	ENSP00000504410.1:n.*850T>C
ENST00000676945.1:c.1191+1378T>C	ENSP00000504433.1:n.1191+1378T>C
ENST00000677065.1:n.1832T>C
ENST00000677414.1:c.1271T>C	ENSP00000503116.1:p.Leu424Pro
ENST00000677529.1:n.3001T>C
ENST00000677596.1:c.*1493T>C	ENSP00000503618.1:n.*1493T>C
ENST00000677599.1:c.1191+1378T>C	ENSP00000503673.1:n.1191+1378T>C
ENST00000677748.1:n.3526T>C
ENST00000677880.1:c.836T>C	ENSP00000503121.1:p.Leu279Pro
ENST00000678021.1:c.*894T>C	ENSP00000504674.1:n.*894T>C
ENST00000678233.1:c.1271T>C	ENSP00000504728.1:p.Leu424Pro
ENST00000678320.1:c.1172T>C	ENSP00000503680.1:p.Leu391Pro
ENST00000678655.1:c.1092+1378T>C	ENSP00000504230.1:n.1092+1378T>C
ENST00000678706.1:c.*648T>C	ENSP00000503659.1:n.*648T>C
ENST00000678776.1:c.*1408T>C	ENSP00000504624.1:n.*1408T>C
ENST00000678784.1:c.1073-2217T>C	ENSP00000504652.1:n.1073-2217T>C
ENST00000678820.1:c.1089+1378T>C	ENSP00000504138.1:n.1089+1378T>C
ENST00000678835.1:c.*757-2217T>C	ENSP00000504343.1:n.*757-2217T>C
ENST00000679088.1:c.1271T>C	ENSP00000504727.1:p.Leu424Pro
ENST00000679098.1:c.1271T>C	ENSP00000504303.1:p.Leu424Pro
ENST00000366782.5:c.1370T>C	ENSP00000355746.1:p.Leu457Pro
ENST00000366783.7:c.1271T>C	ENSP00000355747.3:p.Leu424Pro
ENST00000422240.6:c.1268T>C	ENSP00000403737.2:p.Leu423Pro
ENST00000471728.1:n.529T>C
ENST00000472139.2:c.839T>C	ENSP00000427806.1:p.Leu280Pro
ENST00000626989.2:c.1370T>C	ENSP00000486498.1:p.Leu457Pro
NM_000447.2:c.1271T>C	NP_000438.2:p.Leu424Pro
NM_012486.2:c.1268T>C	NP_036618.2:p.Leu423Pro
XM_005273199.2:c.1271T>C	XP_005273256.1:p.Leu424Pro
XM_011544236.1:c.839T>C	XP_011542538.1:p.Leu280Pro
XR_949149.1:n.2005T>C
XM_005273199.4:c.1271T>C	XP_005273256.1:p.Leu424Pro
XM_017001835.1:c.1271T>C	XP_016857324.1:p.Leu424Pro
XM_017001836.1:c.1268T>C	XP_016857325.1:p.Leu423Pro
XR_001737316.2:n.1478-2217T>C
XR_001737317.2:n.1478-2217T>C
XR_001737318.2:n.1986T>C
XR_001737319.1:n.2329T>C
XR_001737320.1:n.2326T>C
XR_001737321.1:n.1821T>C
XR_949149.2:n.1983T>C
XR_949150.3:n.2202T>C
NM_000447.3:c.1271T>C MANE Select	NP_000438.2:p.Leu424Pro
NM_012486.3:c.1268T>C	NP_036618.2:p.Leu423Pro