Canonical Allele Identifier: CA2650788091

Gene: PSEN2

Linked Data

• gnomAD v4: 1-226894246-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894247_226894248del , CM000663.2:g.226894247_226894248del	GRCh38
NC_000001.10:g.227081948_227081949del , CM000663.1:g.227081948_227081949del	GRCh37
NC_000001.9:g.225148571_225148572del	NCBI36
NG_007381.1:g.28676_28677del
NG_012825.2:g.1712_1713del
NG_007381.2:g.29064_29065del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1191+122_1191+123del	ENSP00000355741.2:n.1191+122_1191+123del
ENST00000366782.6:c.1191+122_1191+123del	ENSP00000355746.2:n.1191+122_1191+123del
ENST00000366783.8:c.1191+122_1191+123del MANE Select	ENSP00000355747.3:n.1191+122_1191+123del
ENST00000471728.2:n.1829+122_1829+123del
ENST00000524196.6:c.1191+122_1191+123del	ENSP00000429036.2:n.1191+122_1191+123del
ENST00000626989.3:c.1191+122_1191+123del	ENSP00000486498.2:n.1191+122_1191+123del
ENST00000676467.1:c.*1018+122_*1018+123del	ENSP00000504294.1:n.*1018+122_*1018+123del
ENST00000676747.1:c.1188+122_1188+123del	ENSP00000503244.1:n.1188+122_1188+123del
ENST00000676884.1:c.1191+122_1191+123del	ENSP00000503200.1:n.1191+122_1191+123del
ENST00000676888.1:c.*532+122_*532+123del	ENSP00000504483.1:n.*532+122_*532+123del
ENST00000676907.1:c.*770+122_*770+123del	ENSP00000504410.1:n.*770+122_*770+123del
ENST00000676945.1:c.1191+122_1191+123del	ENSP00000504433.1:n.1191+122_1191+123del
ENST00000677065.1:n.1752+122_1752+123del
ENST00000677414.1:c.1191+122_1191+123del	ENSP00000503116.1:n.1191+122_1191+123del
ENST00000677529.1:n.2921+122_2921+123del
ENST00000677596.1:c.*1413+122_*1413+123del	ENSP00000503618.1:n.*1413+122_*1413+123del
ENST00000677599.1:c.1191+122_1191+123del	ENSP00000503673.1:n.1191+122_1191+123del
ENST00000677748.1:n.3446+122_3446+123del
ENST00000677880.1:c.756+122_756+123del	ENSP00000503121.1:n.756+122_756+123del
ENST00000678021.1:c.*814+122_*814+123del	ENSP00000504674.1:n.*814+122_*814+123del
ENST00000678233.1:c.1191+122_1191+123del	ENSP00000504728.1:n.1191+122_1191+123del
ENST00000678320.1:c.1092+122_1092+123del	ENSP00000503680.1:n.1092+122_1092+123del
ENST00000678655.1:c.1092+122_1092+123del	ENSP00000504230.1:n.1092+122_1092+123del
ENST00000678706.1:c.*568+122_*568+123del	ENSP00000503659.1:n.*568+122_*568+123del
ENST00000678776.1:c.*1328+122_*1328+123del	ENSP00000504624.1:n.*1328+122_*1328+123del
ENST00000678784.1:c.1072+2403_1072+2404del	ENSP00000504652.1:n.1072+2403_1072+2404del
ENST00000678820.1:c.1089+122_1089+123del	ENSP00000504138.1:n.1089+122_1089+123del
ENST00000678835.1:c.*756+2403_*756+2404del	ENSP00000504343.1:n.*756+2403_*756+2404del
ENST00000679088.1:c.1191+122_1191+123del	ENSP00000504727.1:n.1191+122_1191+123del
ENST00000679098.1:c.1191+122_1191+123del	ENSP00000504303.1:n.1191+122_1191+123del
ENST00000366782.5:c.1290+122_1290+123del	ENSP00000355746.1:n.1290+122_1290+123del
ENST00000366783.7:c.1191+122_1191+123del	ENSP00000355747.3:n.1191+122_1191+123del
ENST00000422240.6:c.1188+122_1188+123del	ENSP00000403737.2:n.1188+122_1188+123del
ENST00000471728.1:n.449+122_449+123del
ENST00000472139.2:c.759+122_759+123del	ENSP00000427806.1:n.759+122_759+123del
ENST00000626989.2:c.1290+122_1290+123del	ENSP00000486498.1:n.1290+122_1290+123del
NM_000447.2:c.1191+122_1191+123del	NP_000438.2:n.1191+122_1191+123del
NM_012486.2:c.1188+122_1188+123del	NP_036618.2:n.1188+122_1188+123del
XM_005273199.2:c.1191+122_1191+123del	XP_005273256.1:n.1191+122_1191+123del
XM_011544236.1:c.759+122_759+123del	XP_011542538.1:n.759+122_759+123del
XR_949149.1:n.1925+122_1925+123del
XM_005273199.4:c.1191+122_1191+123del	XP_005273256.1:n.1191+122_1191+123del
XM_017001835.1:c.1191+122_1191+123del	XP_016857324.1:n.1191+122_1191+123del
XM_017001836.1:c.1188+122_1188+123del	XP_016857325.1:n.1188+122_1188+123del
XR_001737316.2:n.1477+2403_1477+2404del
XR_001737317.2:n.1477+2403_1477+2404del
XR_001737318.2:n.1906+122_1906+123del
XR_001737319.1:n.2249+122_2249+123del
XR_001737320.1:n.2246+122_2246+123del
XR_001737321.1:n.1741+122_1741+123del
XR_949149.2:n.1903+122_1903+123del
XR_949150.3:n.2122+122_2122+123del
NM_000447.3:c.1191+122_1191+123del MANE Select	NP_000438.2:n.1191+122_1191+123del
NM_012486.3:c.1188+122_1188+123del	NP_036618.2:n.1188+122_1188+123del