Canonical Allele Identifier: CA10610268

Gene: PSEN2

Linked Data

• ClinVar Variation Id: 296003
• ClinVar RCV Id: RCV000278741 ; RCV000406189
• dbSNP Id: rs202160009
• gnomAD v2: 1-227083657-C-T
• gnomAD v3: 1-226895956-C-T
• gnomAD v4: 1-226895956-C-T
• COSMIC: COSN14562948
• MyVariant Identifiers: chr1:g.227083657C>T (hg19) ; chr1:g.226895956C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895956C>T , CM000663.2:g.226895956C>T	GRCh38
NC_000001.10:g.227083657C>T , CM000663.1:g.227083657C>T	GRCh37
NC_000001.9:g.225150280C>T	NCBI36
NG_007381.1:g.30385C>T
NG_012825.2:g.3421C>T
NG_007381.2:g.30773C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000366779.6:c.*377C>T	ENSP00000355741.2:n.*377C>T
ENST00000366782.6:c.*377C>T	ENSP00000355746.2:n.*377C>T
ENST00000366783.8:c.*377C>T MANE Select	ENSP00000355747.3:n.*377C>T
ENST00000471728.2:n.2362C>T
ENST00000524196.6:c.*377C>T	ENSP00000429036.2:n.*377C>T
ENST00000626989.3:c.*377C>T	ENSP00000486498.2:n.*377C>T
ENST00000676467.1:c.*1551C>T	ENSP00000504294.1:n.*1551C>T
ENST00000676747.1:c.1189-1764C>T	ENSP00000503244.1:n.1189-1764C>T
ENST00000676884.1:c.*377C>T	ENSP00000503200.1:n.*377C>T
ENST00000676888.1:c.*1065C>T	ENSP00000504483.1:n.*1065C>T
ENST00000676907.1:c.*1303C>T	ENSP00000504410.1:n.*1303C>T
ENST00000676945.1:c.1191+1831C>T	ENSP00000504433.1:n.1191+1831C>T
ENST00000677065.1:n.2285C>T
ENST00000677414.1:c.*377C>T	ENSP00000503116.1:n.*377C>T
ENST00000677529.1:n.3454C>T
ENST00000677596.1:c.*1946C>T	ENSP00000503618.1:n.*1946C>T
ENST00000677599.1:c.1191+1831C>T	ENSP00000503673.1:n.1191+1831C>T
ENST00000677748.1:n.3979C>T
ENST00000677880.1:c.*377C>T	ENSP00000503121.1:n.*377C>T
ENST00000678021.1:c.*1347C>T	ENSP00000504674.1:n.*1347C>T
ENST00000678233.1:c.*8+369C>T	ENSP00000504728.1:n.*8+369C>T
ENST00000678320.1:c.*377C>T	ENSP00000503680.1:n.*377C>T
ENST00000678655.1:c.1093-1764C>T	ENSP00000504230.1:n.1093-1764C>T
ENST00000678706.1:c.*1101C>T	ENSP00000503659.1:n.*1101C>T
ENST00000678776.1:c.*1861C>T	ENSP00000504624.1:n.*1861C>T
ENST00000678784.1:c.1073-1764C>T	ENSP00000504652.1:n.1073-1764C>T
ENST00000678820.1:c.1090-1764C>T	ENSP00000504138.1:n.1090-1764C>T
ENST00000678835.1:c.*757-1764C>T	ENSP00000504343.1:n.*757-1764C>T
ENST00000679088.1:c.*377C>T	ENSP00000504727.1:n.*377C>T
ENST00000679098.1:c.*8+369C>T	ENSP00000504303.1:n.*8+369C>T
ENST00000366782.5:c.*377C>T	ENSP00000355746.1:n.*377C>T
ENST00000366783.7:c.*377C>T	ENSP00000355747.3:n.*377C>T
ENST00000626989.2:c.1823C>T	ENSP00000486498.1:n.1823C>T
NM_000447.2:c.*377C>T	NP_000438.2:n.*377C>T
NM_012486.2:c.*377C>T	NP_036618.2:n.*377C>T
XM_005273199.2:c.*377C>T	XP_005273256.1:n.*377C>T
XM_011544236.1:c.*377C>T	XP_011542538.1:n.*377C>T
XM_005273199.4:c.*377C>T	XP_005273256.1:n.*377C>T
XM_017001835.1:c.*377C>T	XP_016857324.1:n.*377C>T
XM_017001836.1:c.*377C>T	XP_016857325.1:n.*377C>T
XR_001737316.2:n.1478-1764C>T
XR_001737317.2:n.1478-1764C>T
XR_001737318.2:n.2439C>T
XR_001737319.1:n.2782C>T
XR_001737320.1:n.2779C>T
XR_001737321.1:n.2274C>T
XR_949149.2:n.2436C>T
XR_949150.3:n.2655C>T
NM_000447.3:c.*377C>T MANE Select	NP_000438.2:n.*377C>T
NM_012486.3:c.*377C>T	NP_036618.2:n.*377C>T