Canonical Allele Identifier: CA38627128

Gene: PSEN2

Linked Data

• dbSNP Id: rs201399057
• gnomAD v3: 1-226895599-G-C
• gnomAD v4: 1-226895599-G-C
• MyVariant Identifiers: chr1:g.227083300G>C (hg19) ; chr1:g.226895599G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895599G>C , CM000663.2:g.226895599G>C	GRCh38
NC_000001.10:g.227083300G>C , CM000663.1:g.227083300G>C	GRCh37
NC_000001.9:g.225149923G>C	NCBI36
NG_007381.1:g.30028G>C
NG_012825.2:g.3064G>C
NG_007381.2:g.30416G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366779.6:c.*20G>C	ENSP00000355741.2:n.*20G>C
ENST00000366782.6:c.*20G>C	ENSP00000355746.2:n.*20G>C
ENST00000366783.8:c.*20G>C MANE Select	ENSP00000355747.3:n.*20G>C
ENST00000471728.2:n.2005G>C
ENST00000524196.6:c.*20G>C	ENSP00000429036.2:n.*20G>C
ENST00000626989.3:c.*20G>C	ENSP00000486498.2:n.*20G>C
ENST00000676467.1:c.*1194G>C	ENSP00000504294.1:n.*1194G>C
ENST00000676747.1:c.1188+1474G>C	ENSP00000503244.1:n.1188+1474G>C
ENST00000676884.1:c.*20G>C	ENSP00000503200.1:n.*20G>C
ENST00000676888.1:c.*708G>C	ENSP00000504483.1:n.*708G>C
ENST00000676907.1:c.*946G>C	ENSP00000504410.1:n.*946G>C
ENST00000676945.1:c.1191+1474G>C	ENSP00000504433.1:n.1191+1474G>C
ENST00000677065.1:n.1928G>C
ENST00000677414.1:c.*20G>C	ENSP00000503116.1:n.*20G>C
ENST00000677529.1:n.3097G>C
ENST00000677596.1:c.*1589G>C	ENSP00000503618.1:n.*1589G>C
ENST00000677599.1:c.1191+1474G>C	ENSP00000503673.1:n.1191+1474G>C
ENST00000677748.1:n.3622G>C
ENST00000677880.1:c.*20G>C	ENSP00000503121.1:n.*20G>C
ENST00000678021.1:c.*990G>C	ENSP00000504674.1:n.*990G>C
ENST00000678233.1:c.*8+12G>C	ENSP00000504728.1:n.*8+12G>C
ENST00000678320.1:c.*20G>C	ENSP00000503680.1:n.*20G>C
ENST00000678655.1:c.1092+1474G>C	ENSP00000504230.1:n.1092+1474G>C
ENST00000678706.1:c.*744G>C	ENSP00000503659.1:n.*744G>C
ENST00000678776.1:c.*1504G>C	ENSP00000504624.1:n.*1504G>C
ENST00000678784.1:c.1073-2121G>C	ENSP00000504652.1:n.1073-2121G>C
ENST00000678820.1:c.1089+1474G>C	ENSP00000504138.1:n.1089+1474G>C
ENST00000678835.1:c.*757-2121G>C	ENSP00000504343.1:n.*757-2121G>C
ENST00000679088.1:c.*20G>C	ENSP00000504727.1:n.*20G>C
ENST00000679098.1:c.*8+12G>C	ENSP00000504303.1:n.*8+12G>C
ENST00000366782.5:c.*20G>C	ENSP00000355746.1:n.*20G>C
ENST00000366783.7:c.*20G>C	ENSP00000355747.3:n.*20G>C
ENST00000422240.6:c.*20G>C	ENSP00000403737.2:n.*20G>C
ENST00000472139.2:c.*20G>C	ENSP00000427806.1:n.*20G>C
ENST00000626989.2:c.1466G>C	ENSP00000486498.1:n.1466G>C
NM_000447.2:c.*20G>C	NP_000438.2:n.*20G>C
NM_012486.2:c.*20G>C	NP_036618.2:n.*20G>C
XM_005273199.2:c.*20G>C	XP_005273256.1:n.*20G>C
XM_011544236.1:c.*20G>C	XP_011542538.1:n.*20G>C
XM_005273199.4:c.*20G>C	XP_005273256.1:n.*20G>C
XM_017001835.1:c.*20G>C	XP_016857324.1:n.*20G>C
XM_017001836.1:c.*20G>C	XP_016857325.1:n.*20G>C
XR_001737316.2:n.1478-2121G>C
XR_001737317.2:n.1478-2121G>C
XR_001737318.2:n.2082G>C
XR_001737319.1:n.2425G>C
XR_001737320.1:n.2422G>C
XR_001737321.1:n.1917G>C
XR_949149.2:n.2079G>C
XR_949150.3:n.2298G>C
NM_000447.3:c.*20G>C MANE Select	NP_000438.2:n.*20G>C
NM_012486.3:c.*20G>C	NP_036618.2:n.*20G>C