Canonical Allele Identifier: CA1424430

Gene: PSEN2

Linked Data

• ClinVar Variation Id: 1573053
• ClinVar RCV Id: RCV002207852
• dbSNP Id: rs139332886
• ExAC: 1:227071429 C / T
• gnomAD v2: 1-227071429-C-T
• gnomAD v3: 1-226883728-C-T
• gnomAD v4: 1-226883728-C-T
• MyVariant Identifiers: chr1:g.227071429C>T (hg19) ; chr1:g.226883728C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226883728C>T , CM000663.2:g.226883728C>T	GRCh38
NC_000001.10:g.227071429C>T , CM000663.1:g.227071429C>T	GRCh37
NC_000001.9:g.225138052C>T	NCBI36
NG_007381.1:g.18157C>T
NG_007381.2:g.18545C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.165C>T	ENSP00000355741.2:p.Asp55=
ENST00000366782.6:c.165C>T	ENSP00000355746.2:p.Asp55=
ENST00000366783.8:c.165C>T MANE Select	ENSP00000355747.3:p.Asp55=
ENST00000524196.6:c.165C>T	ENSP00000429036.2:p.Asp55=
ENST00000626989.3:c.165C>T	ENSP00000486498.2:p.Asp55=
ENST00000676467.1:c.160C>T	ENSP00000504294.1:p.Arg54Trp
ENST00000676747.1:c.165C>T	ENSP00000503244.1:p.Asp55=
ENST00000676840.1:c.165C>T	ENSP00000504318.1:p.Asp55=
ENST00000676884.1:c.165C>T	ENSP00000503200.1:p.Asp55=
ENST00000676888.1:c.165C>T	ENSP00000504483.1:p.Asp55=
ENST00000676907.1:c.165C>T	ENSP00000504410.1:p.Asp55=
ENST00000676945.1:c.165C>T	ENSP00000504433.1:p.Asp55=
ENST00000677065.1:n.726C>T
ENST00000677414.1:c.165C>T	ENSP00000503116.1:p.Asp55=
ENST00000677529.1:n.603C>T
ENST00000677596.1:c.160C>T	ENSP00000503618.1:p.Arg54Trp
ENST00000677599.1:c.165C>T	ENSP00000503673.1:p.Asp55=
ENST00000677748.1:n.603C>T
ENST00000677880.1:c.-153-1733C>T	ENSP00000503121.1:n.-153-1733C>T
ENST00000678021.1:c.141+1680C>T	ENSP00000504674.1:n.141+1680C>T
ENST00000678233.1:c.165C>T	ENSP00000504728.1:p.Asp55=
ENST00000678320.1:c.165C>T	ENSP00000503680.1:p.Asp55=
ENST00000678655.1:c.165C>T	ENSP00000504230.1:p.Asp55=
ENST00000678706.1:c.165C>T	ENSP00000503659.1:p.Asp55=
ENST00000678776.1:c.160C>T	ENSP00000504624.1:p.Arg54Trp
ENST00000678784.1:c.165C>T	ENSP00000504652.1:p.Asp55=
ENST00000678820.1:c.165C>T	ENSP00000504138.1:p.Asp55=
ENST00000678835.1:c.165C>T	ENSP00000504343.1:p.Asp55=
ENST00000679088.1:c.165C>T	ENSP00000504727.1:p.Asp55=
ENST00000679098.1:c.165C>T	ENSP00000504303.1:p.Asp55=
ENST00000366782.5:c.264C>T	ENSP00000355746.1:p.Asp88=
ENST00000366783.7:c.165C>T	ENSP00000355747.3:p.Asp55=
ENST00000422240.6:c.165C>T	ENSP00000403737.2:p.Asp55=
ENST00000460775.5:c.-21-4363C>T	ENSP00000427912.1:n.-21-4363C>T
ENST00000495488.5:c.165C>T	ENSP00000429682.1:p.Asp55=
ENST00000626989.2:c.264C>T	ENSP00000486498.1:p.Asp88=
NM_000447.2:c.165C>T	NP_000438.2:p.Asp55=
NM_012486.2:c.165C>T	NP_036618.2:p.Asp55=
XM_005273199.2:c.165C>T	XP_005273256.1:p.Asp55=
XM_011544236.1:c.-76-1810C>T	XP_011542538.1:n.-76-1810C>T
XR_949149.1:n.592C>T
XR_949150.1:n.592C>T
XM_005273199.4:c.165C>T	XP_005273256.1:p.Asp55=
XM_017001835.1:c.165C>T	XP_016857324.1:p.Asp55=
XM_017001836.1:c.165C>T	XP_016857325.1:p.Asp55=
XR_001737316.2:n.570C>T
XR_001737317.2:n.570C>T
XR_001737318.2:n.570C>T
XR_001737319.1:n.913C>T
XR_001737320.1:n.913C>T
XR_001737321.1:n.405C>T
XR_949149.2:n.570C>T
XR_949150.3:n.570C>T
NM_000447.3:c.165C>T MANE Select	NP_000438.2:p.Asp55=
NM_012486.3:c.165C>T	NP_036618.2:p.Asp55=