Canonical Allele Identifier: CA10609257

Gene: PSEN2

Linked Data

• ClinVar Variation Id: 296004
• ClinVar RCV Id: RCV000342972 ; RCV000405292
• dbSNP Id: rs116807339
• gnomAD v2: 1-227083685-G-T
• gnomAD v3: 1-226895984-G-T
• gnomAD v4: 1-226895984-G-T
• MyVariant Identifiers: chr1:g.227083685G>T (hg19) ; chr1:g.226895984G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895984G>T , CM000663.2:g.226895984G>T	GRCh38
NC_000001.10:g.227083685G>T , CM000663.1:g.227083685G>T	GRCh37
NC_000001.9:g.225150308G>T	NCBI36
NG_007381.1:g.30413G>T
NG_012825.2:g.3449G>T
NG_007381.2:g.30801G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*405G>T	ENSP00000355741.2:n.*405G>T
ENST00000366782.6:c.*405G>T	ENSP00000355746.2:n.*405G>T
ENST00000366783.8:c.*405G>T MANE Select	ENSP00000355747.3:n.*405G>T
ENST00000471728.2:n.2390G>T
ENST00000524196.6:c.*405G>T	ENSP00000429036.2:n.*405G>T
ENST00000626989.3:c.*405G>T	ENSP00000486498.2:n.*405G>T
ENST00000676467.1:c.*1579G>T	ENSP00000504294.1:n.*1579G>T
ENST00000676747.1:c.1189-1736G>T	ENSP00000503244.1:n.1189-1736G>T
ENST00000676884.1:c.*405G>T	ENSP00000503200.1:n.*405G>T
ENST00000676888.1:c.*1093G>T	ENSP00000504483.1:n.*1093G>T
ENST00000676907.1:c.*1331G>T	ENSP00000504410.1:n.*1331G>T
ENST00000676945.1:c.1191+1859G>T	ENSP00000504433.1:n.1191+1859G>T
ENST00000677065.1:n.2313G>T
ENST00000677414.1:c.*405G>T	ENSP00000503116.1:n.*405G>T
ENST00000677529.1:n.3482G>T
ENST00000677596.1:c.*1974G>T	ENSP00000503618.1:n.*1974G>T
ENST00000677599.1:c.1191+1859G>T	ENSP00000503673.1:n.1191+1859G>T
ENST00000677748.1:n.4007G>T
ENST00000677880.1:c.*405G>T	ENSP00000503121.1:n.*405G>T
ENST00000678021.1:c.*1375G>T	ENSP00000504674.1:n.*1375G>T
ENST00000678233.1:c.*8+397G>T	ENSP00000504728.1:n.*8+397G>T
ENST00000678320.1:c.*405G>T	ENSP00000503680.1:n.*405G>T
ENST00000678655.1:c.1093-1736G>T	ENSP00000504230.1:n.1093-1736G>T
ENST00000678706.1:c.*1129G>T	ENSP00000503659.1:n.*1129G>T
ENST00000678776.1:c.*1889G>T	ENSP00000504624.1:n.*1889G>T
ENST00000678784.1:c.1073-1736G>T	ENSP00000504652.1:n.1073-1736G>T
ENST00000678820.1:c.1090-1736G>T	ENSP00000504138.1:n.1090-1736G>T
ENST00000678835.1:c.*757-1736G>T	ENSP00000504343.1:n.*757-1736G>T
ENST00000679088.1:c.*405G>T	ENSP00000504727.1:n.*405G>T
ENST00000679098.1:c.*8+397G>T	ENSP00000504303.1:n.*8+397G>T
ENST00000366782.5:c.*405G>T	ENSP00000355746.1:n.*405G>T
ENST00000366783.7:c.*405G>T	ENSP00000355747.3:n.*405G>T
ENST00000626989.2:c.1851G>T	ENSP00000486498.1:n.1851G>T
NM_000447.2:c.*405G>T	NP_000438.2:n.*405G>T
NM_012486.2:c.*405G>T	NP_036618.2:n.*405G>T
XM_005273199.2:c.*405G>T	XP_005273256.1:n.*405G>T
XM_011544236.1:c.*405G>T	XP_011542538.1:n.*405G>T
XM_005273199.4:c.*405G>T	XP_005273256.1:n.*405G>T
XM_017001835.1:c.*405G>T	XP_016857324.1:n.*405G>T
XM_017001836.1:c.*405G>T	XP_016857325.1:n.*405G>T
XR_001737316.2:n.1478-1736G>T
XR_001737317.2:n.1478-1736G>T
XR_001737318.2:n.2467G>T
XR_001737319.1:n.2810G>T
XR_001737320.1:n.2807G>T
XR_001737321.1:n.2302G>T
XR_949149.2:n.2464G>T
XR_949150.3:n.2683G>T
NM_000447.3:c.*405G>T MANE Select	NP_000438.2:n.*405G>T
NM_012486.3:c.*405G>T	NP_036618.2:n.*405G>T