Canonical Allele Identifier: CA732356713

Gene: PSEN2

Linked Data

• dbSNP Id: rs1312195414
• MyVariant Identifiers: chr1:g.227083732T>C (hg19) ; chr1:g.226896031T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226896031T>C , CM000663.2:g.226896031T>C	GRCh38
NC_000001.10:g.227083732T>C , CM000663.1:g.227083732T>C	GRCh37
NC_000001.9:g.225150355T>C	NCBI36
NG_007381.1:g.30460T>C
NG_012825.2:g.3496T>C
NG_007381.2:g.30848T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*452T>C	ENSP00000355741.2:n.*452T>C
ENST00000366782.6:c.*452T>C	ENSP00000355746.2:n.*452T>C
ENST00000366783.8:c.*452T>C MANE Select	ENSP00000355747.3:n.*452T>C
ENST00000471728.2:n.2437T>C
ENST00000524196.6:c.*452T>C	ENSP00000429036.2:n.*452T>C
ENST00000626989.3:c.*452T>C	ENSP00000486498.2:n.*452T>C
ENST00000676467.1:c.*1626T>C	ENSP00000504294.1:n.*1626T>C
ENST00000676747.1:c.1189-1689T>C	ENSP00000503244.1:n.1189-1689T>C
ENST00000676884.1:c.*452T>C	ENSP00000503200.1:n.*452T>C
ENST00000676888.1:c.*1140T>C	ENSP00000504483.1:n.*1140T>C
ENST00000676907.1:c.*1378T>C	ENSP00000504410.1:n.*1378T>C
ENST00000676945.1:c.1191+1906T>C	ENSP00000504433.1:n.1191+1906T>C
ENST00000677065.1:n.2360T>C
ENST00000677414.1:c.*452T>C	ENSP00000503116.1:n.*452T>C
ENST00000677529.1:n.3529T>C
ENST00000677596.1:c.*2021T>C	ENSP00000503618.1:n.*2021T>C
ENST00000677599.1:c.1191+1906T>C	ENSP00000503673.1:n.1191+1906T>C
ENST00000677748.1:n.4054T>C
ENST00000677880.1:c.*452T>C	ENSP00000503121.1:n.*452T>C
ENST00000678021.1:c.*1422T>C	ENSP00000504674.1:n.*1422T>C
ENST00000678233.1:c.*8+444T>C	ENSP00000504728.1:n.*8+444T>C
ENST00000678320.1:c.*452T>C	ENSP00000503680.1:n.*452T>C
ENST00000678655.1:c.1093-1689T>C	ENSP00000504230.1:n.1093-1689T>C
ENST00000678706.1:c.*1176T>C	ENSP00000503659.1:n.*1176T>C
ENST00000678776.1:c.*1936T>C	ENSP00000504624.1:n.*1936T>C
ENST00000678784.1:c.1073-1689T>C	ENSP00000504652.1:n.1073-1689T>C
ENST00000678820.1:c.1090-1689T>C	ENSP00000504138.1:n.1090-1689T>C
ENST00000678835.1:c.*757-1689T>C	ENSP00000504343.1:n.*757-1689T>C
ENST00000679088.1:c.*452T>C	ENSP00000504727.1:n.*452T>C
ENST00000679098.1:c.*8+444T>C	ENSP00000504303.1:n.*8+444T>C
ENST00000366782.5:c.*452T>C	ENSP00000355746.1:n.*452T>C
ENST00000366783.7:c.*452T>C	ENSP00000355747.3:n.*452T>C
ENST00000626989.2:c.1898T>C	ENSP00000486498.1:n.1898T>C
NM_000447.2:c.*452T>C	NP_000438.2:n.*452T>C
NM_012486.2:c.*452T>C	NP_036618.2:n.*452T>C
XM_005273199.2:c.*452T>C	XP_005273256.1:n.*452T>C
XM_011544236.1:c.*452T>C	XP_011542538.1:n.*452T>C
XM_005273199.4:c.*452T>C	XP_005273256.1:n.*452T>C
XM_017001835.1:c.*452T>C	XP_016857324.1:n.*452T>C
XM_017001836.1:c.*452T>C	XP_016857325.1:n.*452T>C
XR_001737316.2:n.1478-1689T>C
XR_001737317.2:n.1478-1689T>C
XR_001737318.2:n.2514T>C
XR_001737319.1:n.2857T>C
XR_001737320.1:n.2854T>C
XR_001737321.1:n.2349T>C
XR_949149.2:n.2511T>C
XR_949150.3:n.2730T>C
NM_000447.3:c.*452T>C MANE Select	NP_000438.2:n.*452T>C
NM_012486.3:c.*452T>C	NP_036618.2:n.*452T>C