Canonical Allele Identifier: CA732354919

Gene: PSEN2

Linked Data

• dbSNP Id: rs1179676003
• gnomAD v3: 1-226893994-TCTC-T
• gnomAD v4: 1-226893994-TCTC-T
• MyVariant Identifiers: chr1:g.227081696_227081698del (hg19) ; chr1:g.226893995_226893997del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226893998_226894000del , CM000663.2:g.226893998_226894000del	GRCh38
NC_000001.10:g.227081699_227081701del , CM000663.1:g.227081699_227081701del	GRCh37
NC_000001.9:g.225148322_225148324del	NCBI36
NG_007381.1:g.28427_28429del
NG_012825.2:g.1463_1465del
NG_007381.2:g.28815_28817del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1073-9_1073-7del	ENSP00000355741.2:n.1073-9_1073-7del
ENST00000366782.6:c.1073-9_1073-7del	ENSP00000355746.2:n.1073-9_1073-7del
ENST00000366783.8:c.1073-9_1073-7del MANE Select	ENSP00000355747.3:n.1073-9_1073-7del
ENST00000471728.2:n.1711-9_1711-7del
ENST00000524196.6:c.1073-9_1073-7del	ENSP00000429036.2:n.1073-9_1073-7del
ENST00000626989.3:c.1073-9_1073-7del	ENSP00000486498.2:n.1073-9_1073-7del
ENST00000676467.1:c.*900-9_*900-7del	ENSP00000504294.1:n.*900-9_*900-7del
ENST00000676747.1:c.1070-9_1070-7del	ENSP00000503244.1:n.1070-9_1070-7del
ENST00000676884.1:c.1073-9_1073-7del	ENSP00000503200.1:n.1073-9_1073-7del
ENST00000676888.1:c.*414-9_*414-7del	ENSP00000504483.1:n.*414-9_*414-7del
ENST00000676907.1:c.*652-9_*652-7del	ENSP00000504410.1:n.*652-9_*652-7del
ENST00000676945.1:c.1073-9_1073-7del	ENSP00000504433.1:n.1073-9_1073-7del
ENST00000677065.1:n.1634-9_1634-7del
ENST00000677414.1:c.1073-9_1073-7del	ENSP00000503116.1:n.1073-9_1073-7del
ENST00000677529.1:n.2803-9_2803-7del
ENST00000677596.1:c.*1295-9_*1295-7del	ENSP00000503618.1:n.*1295-9_*1295-7del
ENST00000677599.1:c.1073-9_1073-7del	ENSP00000503673.1:n.1073-9_1073-7del
ENST00000677748.1:n.3328-9_3328-7del
ENST00000677880.1:c.638-9_638-7del	ENSP00000503121.1:n.638-9_638-7del
ENST00000678021.1:c.*696-9_*696-7del	ENSP00000504674.1:n.*696-9_*696-7del
ENST00000678233.1:c.1073-9_1073-7del	ENSP00000504728.1:n.1073-9_1073-7del
ENST00000678320.1:c.974-9_974-7del	ENSP00000503680.1:n.974-9_974-7del
ENST00000678655.1:c.974-9_974-7del	ENSP00000504230.1:n.974-9_974-7del
ENST00000678706.1:c.*450-9_*450-7del	ENSP00000503659.1:n.*450-9_*450-7del
ENST00000678776.1:c.*1210-9_*1210-7del	ENSP00000504624.1:n.*1210-9_*1210-7del
ENST00000678784.1:c.1072+2154_1072+2156del	ENSP00000504652.1:n.1072+2154_1072+2156del
ENST00000678820.1:c.971-9_971-7del	ENSP00000504138.1:n.971-9_971-7del
ENST00000678835.1:c.*756+2154_*756+2156del	ENSP00000504343.1:n.*756+2154_*756+2156del
ENST00000679088.1:c.1073-9_1073-7del	ENSP00000504727.1:n.1073-9_1073-7del
ENST00000679098.1:c.1073-9_1073-7del	ENSP00000504303.1:n.1073-9_1073-7del
ENST00000366782.5:c.1172-9_1172-7del	ENSP00000355746.1:n.1172-9_1172-7del
ENST00000366783.7:c.1073-9_1073-7del	ENSP00000355747.3:n.1073-9_1073-7del
ENST00000422240.6:c.1070-9_1070-7del	ENSP00000403737.2:n.1070-9_1070-7del
ENST00000471728.1:n.331-9_331-7del
ENST00000472139.2:c.641-9_641-7del	ENSP00000427806.1:n.641-9_641-7del
ENST00000626989.2:c.1172-9_1172-7del	ENSP00000486498.1:n.1172-9_1172-7del
NM_000447.2:c.1073-9_1073-7del	NP_000438.2:n.1073-9_1073-7del
NM_012486.2:c.1070-9_1070-7del	NP_036618.2:n.1070-9_1070-7del
XM_005273199.2:c.1073-9_1073-7del	XP_005273256.1:n.1073-9_1073-7del
XM_011544236.1:c.641-9_641-7del	XP_011542538.1:n.641-9_641-7del
XR_949149.1:n.1807-9_1807-7del
XM_005273199.4:c.1073-9_1073-7del	XP_005273256.1:n.1073-9_1073-7del
XM_017001835.1:c.1073-9_1073-7del	XP_016857324.1:n.1073-9_1073-7del
XM_017001836.1:c.1070-9_1070-7del	XP_016857325.1:n.1070-9_1070-7del
XR_001737316.2:n.1477+2154_1477+2156del
XR_001737317.2:n.1477+2154_1477+2156del
XR_001737318.2:n.1788-9_1788-7del
XR_001737319.1:n.2131-9_2131-7del
XR_001737320.1:n.2128-9_2128-7del
XR_001737321.1:n.1623-9_1623-7del
XR_949149.2:n.1785-9_1785-7del
XR_949150.3:n.2004-9_2004-7del
NM_000447.3:c.1073-9_1073-7del MANE Select	NP_000438.2:n.1073-9_1073-7del
NM_012486.3:c.1070-9_1070-7del	NP_036618.2:n.1070-9_1070-7del