Canonical Allele Identifier: CA423519734

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227081751G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894050G>A , CM000663.2:g.226894050G>A	GRCh38
NC_000001.10:g.227081751G>A , CM000663.1:g.227081751G>A	GRCh37
NC_000001.9:g.225148374G>A	NCBI36
NG_007381.1:g.28479G>A
NG_012825.2:g.1515G>A
NG_007381.2:g.28867G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1116G>A	ENSP00000355741.2:p.Val372=
ENST00000366782.6:c.1116G>A	ENSP00000355746.2:p.Val372=
ENST00000366783.8:c.1116G>A MANE Select	ENSP00000355747.3:p.Val372=
ENST00000471728.2:n.1754G>A
ENST00000524196.6:c.1116G>A	ENSP00000429036.2:p.Val372=
ENST00000626989.3:c.1116G>A	ENSP00000486498.2:p.Val372=
ENST00000676467.1:c.*943G>A	ENSP00000504294.1:n.*943G>A
ENST00000676747.1:c.1113G>A	ENSP00000503244.1:p.Val371=
ENST00000676884.1:c.1116G>A	ENSP00000503200.1:p.Val372=
ENST00000676888.1:c.*457G>A	ENSP00000504483.1:n.*457G>A
ENST00000676907.1:c.*695G>A	ENSP00000504410.1:n.*695G>A
ENST00000676945.1:c.1116G>A	ENSP00000504433.1:p.Val372=
ENST00000677065.1:n.1677G>A
ENST00000677414.1:c.1116G>A	ENSP00000503116.1:p.Val372=
ENST00000677529.1:n.2846G>A
ENST00000677596.1:c.*1338G>A	ENSP00000503618.1:n.*1338G>A
ENST00000677599.1:c.1116G>A	ENSP00000503673.1:p.Val372=
ENST00000677748.1:n.3371G>A
ENST00000677880.1:c.681G>A	ENSP00000503121.1:p.Val227=
ENST00000678021.1:c.*739G>A	ENSP00000504674.1:n.*739G>A
ENST00000678233.1:c.1116G>A	ENSP00000504728.1:p.Val372=
ENST00000678320.1:c.1017G>A	ENSP00000503680.1:p.Val339=
ENST00000678655.1:c.1017G>A	ENSP00000504230.1:p.Val339=
ENST00000678706.1:c.*493G>A	ENSP00000503659.1:n.*493G>A
ENST00000678776.1:c.*1253G>A	ENSP00000504624.1:n.*1253G>A
ENST00000678784.1:c.1072+2206G>A	ENSP00000504652.1:n.1072+2206G>A
ENST00000678820.1:c.1014G>A	ENSP00000504138.1:p.Val338=
ENST00000678835.1:c.*756+2206G>A	ENSP00000504343.1:n.*756+2206G>A
ENST00000679088.1:c.1116G>A	ENSP00000504727.1:p.Val372=
ENST00000679098.1:c.1116G>A	ENSP00000504303.1:p.Val372=
ENST00000366782.5:c.1215G>A	ENSP00000355746.1:p.Val405=
ENST00000366783.7:c.1116G>A	ENSP00000355747.3:p.Val372=
ENST00000422240.6:c.1113G>A	ENSP00000403737.2:p.Val371=
ENST00000471728.1:n.374G>A
ENST00000472139.2:c.684G>A	ENSP00000427806.1:p.Val228=
ENST00000626989.2:c.1215G>A	ENSP00000486498.1:p.Val405=
NM_000447.2:c.1116G>A	NP_000438.2:p.Val372=
NM_012486.2:c.1113G>A	NP_036618.2:p.Val371=
XM_005273199.2:c.1116G>A	XP_005273256.1:p.Val372=
XM_011544236.1:c.684G>A	XP_011542538.1:p.Val228=
XR_949149.1:n.1850G>A
XM_005273199.4:c.1116G>A	XP_005273256.1:p.Val372=
XM_017001835.1:c.1116G>A	XP_016857324.1:p.Val372=
XM_017001836.1:c.1113G>A	XP_016857325.1:p.Val371=
XR_001737316.2:n.1477+2206G>A
XR_001737317.2:n.1477+2206G>A
XR_001737318.2:n.1831G>A
XR_001737319.1:n.2174G>A
XR_001737320.1:n.2171G>A
XR_001737321.1:n.1666G>A
XR_949149.2:n.1828G>A
XR_949150.3:n.2047G>A
NM_000447.3:c.1116G>A MANE Select	NP_000438.2:p.Val372=
NM_012486.3:c.1113G>A	NP_036618.2:p.Val371=