Canonical Allele Identifier: CA345044002

Gene: PSEN2

Linked Data

• gnomAD v4: 1-226894061-A-G
• MyVariant Identifiers: chr1:g.227081762A>G (hg19) ; chr1:g.226894061A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894061A>G , CM000663.2:g.226894061A>G	GRCh38
NC_000001.10:g.227081762A>G , CM000663.1:g.227081762A>G	GRCh37
NC_000001.9:g.225148385A>G	NCBI36
NG_007381.1:g.28490A>G
NG_012825.2:g.1526A>G
NG_007381.2:g.28878A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1127A>G	ENSP00000355741.2:p.Lys376Arg
ENST00000366782.6:c.1127A>G	ENSP00000355746.2:p.Lys376Arg
ENST00000366783.8:c.1127A>G MANE Select	ENSP00000355747.3:p.Lys376Arg
ENST00000471728.2:n.1765A>G
ENST00000524196.6:c.1127A>G	ENSP00000429036.2:p.Lys376Arg
ENST00000626989.3:c.1127A>G	ENSP00000486498.2:p.Lys376Arg
ENST00000676467.1:c.*954A>G	ENSP00000504294.1:n.*954A>G
ENST00000676747.1:c.1124A>G	ENSP00000503244.1:p.Lys375Arg
ENST00000676884.1:c.1127A>G	ENSP00000503200.1:p.Lys376Arg
ENST00000676888.1:c.*468A>G	ENSP00000504483.1:n.*468A>G
ENST00000676907.1:c.*706A>G	ENSP00000504410.1:n.*706A>G
ENST00000676945.1:c.1127A>G	ENSP00000504433.1:p.Lys376Arg
ENST00000677065.1:n.1688A>G
ENST00000677414.1:c.1127A>G	ENSP00000503116.1:p.Lys376Arg
ENST00000677529.1:n.2857A>G
ENST00000677596.1:c.*1349A>G	ENSP00000503618.1:n.*1349A>G
ENST00000677599.1:c.1127A>G	ENSP00000503673.1:p.Lys376Arg
ENST00000677748.1:n.3382A>G
ENST00000677880.1:c.692A>G	ENSP00000503121.1:p.Lys231Arg
ENST00000678021.1:c.*750A>G	ENSP00000504674.1:n.*750A>G
ENST00000678233.1:c.1127A>G	ENSP00000504728.1:p.Lys376Arg
ENST00000678320.1:c.1028A>G	ENSP00000503680.1:p.Lys343Arg
ENST00000678655.1:c.1028A>G	ENSP00000504230.1:p.Lys343Arg
ENST00000678706.1:c.*504A>G	ENSP00000503659.1:n.*504A>G
ENST00000678776.1:c.*1264A>G	ENSP00000504624.1:n.*1264A>G
ENST00000678784.1:c.1072+2217A>G	ENSP00000504652.1:n.1072+2217A>G
ENST00000678820.1:c.1025A>G	ENSP00000504138.1:p.Lys342Arg
ENST00000678835.1:c.*756+2217A>G	ENSP00000504343.1:n.*756+2217A>G
ENST00000679088.1:c.1127A>G	ENSP00000504727.1:p.Lys376Arg
ENST00000679098.1:c.1127A>G	ENSP00000504303.1:p.Lys376Arg
ENST00000366782.5:c.1226A>G	ENSP00000355746.1:p.Lys409Arg
ENST00000366783.7:c.1127A>G	ENSP00000355747.3:p.Lys376Arg
ENST00000422240.6:c.1124A>G	ENSP00000403737.2:p.Lys375Arg
ENST00000471728.1:n.385A>G
ENST00000472139.2:c.695A>G	ENSP00000427806.1:p.Lys232Arg
ENST00000626989.2:c.1226A>G	ENSP00000486498.1:p.Lys409Arg
NM_000447.2:c.1127A>G	NP_000438.2:p.Lys376Arg
NM_012486.2:c.1124A>G	NP_036618.2:p.Lys375Arg
XM_005273199.2:c.1127A>G	XP_005273256.1:p.Lys376Arg
XM_011544236.1:c.695A>G	XP_011542538.1:p.Lys232Arg
XR_949149.1:n.1861A>G
XM_005273199.4:c.1127A>G	XP_005273256.1:p.Lys376Arg
XM_017001835.1:c.1127A>G	XP_016857324.1:p.Lys376Arg
XM_017001836.1:c.1124A>G	XP_016857325.1:p.Lys375Arg
XR_001737316.2:n.1477+2217A>G
XR_001737317.2:n.1477+2217A>G
XR_001737318.2:n.1842A>G
XR_001737319.1:n.2185A>G
XR_001737320.1:n.2182A>G
XR_001737321.1:n.1677A>G
XR_949149.2:n.1839A>G
XR_949150.3:n.2058A>G
NM_000447.3:c.1127A>G MANE Select	NP_000438.2:p.Lys376Arg
NM_012486.3:c.1124A>G	NP_036618.2:p.Lys375Arg