Canonical Allele Identifier: CA1424807

Gene: PSEN2

Linked Data

• dbSNP Id: rs539696910
• ExAC: 1:227081763 G / A
• gnomAD v2: 1-227081763-G-A
• gnomAD v3: 1-226894062-G-A
• gnomAD v4: 1-226894062-G-A
• MyVariant Identifiers: chr1:g.227081763G>A (hg19) ; chr1:g.226894062G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894062G>A , CM000663.2:g.226894062G>A	GRCh38
NC_000001.10:g.227081763G>A , CM000663.1:g.227081763G>A	GRCh37
NC_000001.9:g.225148386G>A	NCBI36
NG_007381.1:g.28491G>A
NG_012825.2:g.1527G>A
NG_007381.2:g.28879G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1128G>A	ENSP00000355741.2:p.Lys376=
ENST00000366782.6:c.1128G>A	ENSP00000355746.2:p.Lys376=
ENST00000366783.8:c.1128G>A MANE Select	ENSP00000355747.3:p.Lys376=
ENST00000471728.2:n.1766G>A
ENST00000524196.6:c.1128G>A	ENSP00000429036.2:p.Lys376=
ENST00000626989.3:c.1128G>A	ENSP00000486498.2:p.Lys376=
ENST00000676467.1:c.*955G>A	ENSP00000504294.1:n.*955G>A
ENST00000676747.1:c.1125G>A	ENSP00000503244.1:p.Lys375=
ENST00000676884.1:c.1128G>A	ENSP00000503200.1:p.Lys376=
ENST00000676888.1:c.*469G>A	ENSP00000504483.1:n.*469G>A
ENST00000676907.1:c.*707G>A	ENSP00000504410.1:n.*707G>A
ENST00000676945.1:c.1128G>A	ENSP00000504433.1:p.Lys376=
ENST00000677065.1:n.1689G>A
ENST00000677414.1:c.1128G>A	ENSP00000503116.1:p.Lys376=
ENST00000677529.1:n.2858G>A
ENST00000677596.1:c.*1350G>A	ENSP00000503618.1:n.*1350G>A
ENST00000677599.1:c.1128G>A	ENSP00000503673.1:p.Lys376=
ENST00000677748.1:n.3383G>A
ENST00000677880.1:c.693G>A	ENSP00000503121.1:p.Lys231=
ENST00000678021.1:c.*751G>A	ENSP00000504674.1:n.*751G>A
ENST00000678233.1:c.1128G>A	ENSP00000504728.1:p.Lys376=
ENST00000678320.1:c.1029G>A	ENSP00000503680.1:p.Lys343=
ENST00000678655.1:c.1029G>A	ENSP00000504230.1:p.Lys343=
ENST00000678706.1:c.*505G>A	ENSP00000503659.1:n.*505G>A
ENST00000678776.1:c.*1265G>A	ENSP00000504624.1:n.*1265G>A
ENST00000678784.1:c.1072+2218G>A	ENSP00000504652.1:n.1072+2218G>A
ENST00000678820.1:c.1026G>A	ENSP00000504138.1:p.Lys342=
ENST00000678835.1:c.*756+2218G>A	ENSP00000504343.1:n.*756+2218G>A
ENST00000679088.1:c.1128G>A	ENSP00000504727.1:p.Lys376=
ENST00000679098.1:c.1128G>A	ENSP00000504303.1:p.Lys376=
ENST00000366782.5:c.1227G>A	ENSP00000355746.1:p.Lys409=
ENST00000366783.7:c.1128G>A	ENSP00000355747.3:p.Lys376=
ENST00000422240.6:c.1125G>A	ENSP00000403737.2:p.Lys375=
ENST00000471728.1:n.386G>A
ENST00000472139.2:c.696G>A	ENSP00000427806.1:p.Lys232=
ENST00000626989.2:c.1227G>A	ENSP00000486498.1:p.Lys409=
NM_000447.2:c.1128G>A	NP_000438.2:p.Lys376=
NM_012486.2:c.1125G>A	NP_036618.2:p.Lys375=
XM_005273199.2:c.1128G>A	XP_005273256.1:p.Lys376=
XM_011544236.1:c.696G>A	XP_011542538.1:p.Lys232=
XR_949149.1:n.1862G>A
XM_005273199.4:c.1128G>A	XP_005273256.1:p.Lys376=
XM_017001835.1:c.1128G>A	XP_016857324.1:p.Lys376=
XM_017001836.1:c.1125G>A	XP_016857325.1:p.Lys375=
XR_001737316.2:n.1477+2218G>A
XR_001737317.2:n.1477+2218G>A
XR_001737318.2:n.1843G>A
XR_001737319.1:n.2186G>A
XR_001737320.1:n.2183G>A
XR_001737321.1:n.1678G>A
XR_949149.2:n.1840G>A
XR_949150.3:n.2059G>A
NM_000447.3:c.1128G>A MANE Select	NP_000438.2:p.Lys376=
NM_012486.3:c.1125G>A	NP_036618.2:p.Lys375=