Canonical Allele Identifier: CA38625730

Gene: PSEN2

Linked Data

• dbSNP Id: rs1005888187
• gnomAD v3: 1-226894344-A-AG
• gnomAD v4: 1-226894344-A-AG
• MyVariant Identifiers: chr1:g.227082045_227082046insG (hg19) ; chr1:g.226894344_226894345insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894348dup , CM000663.2:g.226894348dup	GRCh38
NC_000001.10:g.227082049dup , CM000663.1:g.227082049dup	GRCh37
NC_000001.9:g.225148672dup	NCBI36
NG_007381.1:g.28777dup
NG_012825.2:g.1813dup
NG_007381.2:g.29165dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1191+223dup	ENSP00000355741.2:n.1191+223dup
ENST00000366782.6:c.1191+223dup	ENSP00000355746.2:n.1191+223dup
ENST00000366783.8:c.1191+223dup MANE Select	ENSP00000355747.3:n.1191+223dup
ENST00000471728.2:n.1829+223dup
ENST00000524196.6:c.1191+223dup	ENSP00000429036.2:n.1191+223dup
ENST00000626989.3:c.1191+223dup	ENSP00000486498.2:n.1191+223dup
ENST00000676467.1:c.*1018+223dup	ENSP00000504294.1:n.*1018+223dup
ENST00000676747.1:c.1188+223dup	ENSP00000503244.1:n.1188+223dup
ENST00000676884.1:c.1191+223dup	ENSP00000503200.1:n.1191+223dup
ENST00000676888.1:c.*532+223dup	ENSP00000504483.1:n.*532+223dup
ENST00000676907.1:c.*770+223dup	ENSP00000504410.1:n.*770+223dup
ENST00000676945.1:c.1191+223dup	ENSP00000504433.1:n.1191+223dup
ENST00000677065.1:n.1752+223dup
ENST00000677414.1:c.1191+223dup	ENSP00000503116.1:n.1191+223dup
ENST00000677529.1:n.2921+223dup
ENST00000677596.1:c.*1413+223dup	ENSP00000503618.1:n.*1413+223dup
ENST00000677599.1:c.1191+223dup	ENSP00000503673.1:n.1191+223dup
ENST00000677748.1:n.3446+223dup
ENST00000677880.1:c.756+223dup	ENSP00000503121.1:n.756+223dup
ENST00000678021.1:c.*814+223dup	ENSP00000504674.1:n.*814+223dup
ENST00000678233.1:c.1191+223dup	ENSP00000504728.1:n.1191+223dup
ENST00000678320.1:c.1092+223dup	ENSP00000503680.1:n.1092+223dup
ENST00000678655.1:c.1092+223dup	ENSP00000504230.1:n.1092+223dup
ENST00000678706.1:c.*568+223dup	ENSP00000503659.1:n.*568+223dup
ENST00000678776.1:c.*1328+223dup	ENSP00000504624.1:n.*1328+223dup
ENST00000678784.1:c.1072+2504dup	ENSP00000504652.1:n.1072+2504dup
ENST00000678820.1:c.1089+223dup	ENSP00000504138.1:n.1089+223dup
ENST00000678835.1:c.*756+2504dup	ENSP00000504343.1:n.*756+2504dup
ENST00000679088.1:c.1191+223dup	ENSP00000504727.1:n.1191+223dup
ENST00000679098.1:c.1191+223dup	ENSP00000504303.1:n.1191+223dup
ENST00000366782.5:c.1290+223dup	ENSP00000355746.1:n.1290+223dup
ENST00000366783.7:c.1191+223dup	ENSP00000355747.3:n.1191+223dup
ENST00000422240.6:c.1188+223dup	ENSP00000403737.2:n.1188+223dup
ENST00000471728.1:n.449+223dup
ENST00000472139.2:c.759+223dup	ENSP00000427806.1:n.759+223dup
ENST00000626989.2:c.1290+223dup	ENSP00000486498.1:n.1290+223dup
NM_000447.2:c.1191+223dup	NP_000438.2:n.1191+223dup
NM_012486.2:c.1188+223dup	NP_036618.2:n.1188+223dup
XM_005273199.2:c.1191+223dup	XP_005273256.1:n.1191+223dup
XM_011544236.1:c.759+223dup	XP_011542538.1:n.759+223dup
XR_949149.1:n.1925+223dup
XM_005273199.4:c.1191+223dup	XP_005273256.1:n.1191+223dup
XM_017001835.1:c.1191+223dup	XP_016857324.1:n.1191+223dup
XM_017001836.1:c.1188+223dup	XP_016857325.1:n.1188+223dup
XR_001737316.2:n.1477+2504dup
XR_001737317.2:n.1477+2504dup
XR_001737318.2:n.1906+223dup
XR_001737319.1:n.2249+223dup
XR_001737320.1:n.2246+223dup
XR_001737321.1:n.1741+223dup
XR_949149.2:n.1903+223dup
XR_949150.3:n.2122+223dup
NM_000447.3:c.1191+223dup MANE Select	NP_000438.2:n.1191+223dup
NM_012486.3:c.1188+223dup	NP_036618.2:n.1188+223dup