Canonical Allele Identifier: CA732356617

Gene: PSEN2

Linked Data

• dbSNP Id: rs1301990277
• gnomAD v3: 1-226895891-AGT-A
• gnomAD v4: 1-226895891-AGT-A
• MyVariant Identifiers: chr1:g.227083593_227083594del (hg19) ; chr1:g.226895892_226895893del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895895_226895896del , CM000663.2:g.226895895_226895896del	GRCh38
NC_000001.10:g.227083596_227083597del , CM000663.1:g.227083596_227083597del	GRCh37
NC_000001.9:g.225150219_225150220del	NCBI36
NG_007381.1:g.30324_30325del
NG_012825.2:g.3360_3361del
NG_007381.2:g.30712_30713del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*316_*317del	ENSP00000355741.2:n.*316_*317del
ENST00000366782.6:c.*316_*317del	ENSP00000355746.2:n.*316_*317del
ENST00000366783.8:c.*316_*317del MANE Select	ENSP00000355747.3:n.*316_*317del
ENST00000471728.2:n.2301_2302del
ENST00000524196.6:c.*316_*317del	ENSP00000429036.2:n.*316_*317del
ENST00000626989.3:c.*316_*317del	ENSP00000486498.2:n.*316_*317del
ENST00000676467.1:c.*1490_*1491del	ENSP00000504294.1:n.*1490_*1491del
ENST00000676747.1:c.1188+1770_1188+1771del	ENSP00000503244.1:n.1188+1770_1188+1771del
ENST00000676884.1:c.*316_*317del	ENSP00000503200.1:n.*316_*317del
ENST00000676888.1:c.*1004_*1005del	ENSP00000504483.1:n.*1004_*1005del
ENST00000676907.1:c.*1242_*1243del	ENSP00000504410.1:n.*1242_*1243del
ENST00000676945.1:c.1191+1770_1191+1771del	ENSP00000504433.1:n.1191+1770_1191+1771del
ENST00000677065.1:n.2224_2225del
ENST00000677414.1:c.*316_*317del	ENSP00000503116.1:n.*316_*317del
ENST00000677529.1:n.3393_3394del
ENST00000677596.1:c.*1885_*1886del	ENSP00000503618.1:n.*1885_*1886del
ENST00000677599.1:c.1191+1770_1191+1771del	ENSP00000503673.1:n.1191+1770_1191+1771del
ENST00000677748.1:n.3918_3919del
ENST00000677880.1:c.*316_*317del	ENSP00000503121.1:n.*316_*317del
ENST00000678021.1:c.*1286_*1287del	ENSP00000504674.1:n.*1286_*1287del
ENST00000678233.1:c.*8+308_*8+309del	ENSP00000504728.1:n.*8+308_*8+309del
ENST00000678320.1:c.*316_*317del	ENSP00000503680.1:n.*316_*317del
ENST00000678655.1:c.1092+1770_1092+1771del	ENSP00000504230.1:n.1092+1770_1092+1771del
ENST00000678706.1:c.*1040_*1041del	ENSP00000503659.1:n.*1040_*1041del
ENST00000678776.1:c.*1800_*1801del	ENSP00000504624.1:n.*1800_*1801del
ENST00000678784.1:c.1073-1825_1073-1824del	ENSP00000504652.1:n.1073-1825_1073-1824del
ENST00000678820.1:c.1089+1770_1089+1771del	ENSP00000504138.1:n.1089+1770_1089+1771del
ENST00000678835.1:c.*757-1825_*757-1824del	ENSP00000504343.1:n.*757-1825_*757-1824del
ENST00000679088.1:c.*316_*317del	ENSP00000504727.1:n.*316_*317del
ENST00000679098.1:c.*8+308_*8+309del	ENSP00000504303.1:n.*8+308_*8+309del
ENST00000366782.5:c.*316_*317del	ENSP00000355746.1:n.*316_*317del
ENST00000366783.7:c.*316_*317del	ENSP00000355747.3:n.*316_*317del
ENST00000626989.2:c.1762_1763del	ENSP00000486498.1:n.1762_1763del
NM_000447.2:c.*316_*317del	NP_000438.2:n.*316_*317del
NM_012486.2:c.*316_*317del	NP_036618.2:n.*316_*317del
XM_005273199.2:c.*316_*317del	XP_005273256.1:n.*316_*317del
XM_011544236.1:c.*316_*317del	XP_011542538.1:n.*316_*317del
XM_005273199.4:c.*316_*317del	XP_005273256.1:n.*316_*317del
XM_017001835.1:c.*316_*317del	XP_016857324.1:n.*316_*317del
XM_017001836.1:c.*316_*317del	XP_016857325.1:n.*316_*317del
XR_001737316.2:n.1478-1825_1478-1824del
XR_001737317.2:n.1478-1825_1478-1824del
XR_001737318.2:n.2378_2379del
XR_001737319.1:n.2721_2722del
XR_001737320.1:n.2718_2719del
XR_001737321.1:n.2213_2214del
XR_949149.2:n.2375_2376del
XR_949150.3:n.2594_2595del
NM_000447.3:c.*316_*317del MANE Select	NP_000438.2:n.*316_*317del
NM_012486.3:c.*316_*317del	NP_036618.2:n.*316_*317del