Canonical Allele Identifier: CA423733880

Gene: PSEN2

Linked Data

• dbSNP Id: rs1242380805
• gnomAD v2: 1-227076659-C-T
• gnomAD v4: 1-226888958-C-T
• MyVariant Identifiers: chr1:g.227076659C>T (hg19) ; chr1:g.226888958C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226888958C>T , CM000663.2:g.226888958C>T	GRCh38
NC_000001.10:g.227076659C>T , CM000663.1:g.227076659C>T	GRCh37
NC_000001.9:g.225143282C>T	NCBI36
NG_007381.1:g.23387C>T
NG_007381.2:g.23775C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.696C>T	ENSP00000355741.2:p.Leu232=
ENST00000366782.6:c.696C>T	ENSP00000355746.2:p.Leu232=
ENST00000366783.8:c.696C>T MANE Select	ENSP00000355747.3:p.Leu232=
ENST00000524196.6:c.696C>T	ENSP00000429036.2:p.Leu232=
ENST00000626989.3:c.696C>T	ENSP00000486498.2:p.Leu232=
ENST00000676467.1:c.*526C>T	ENSP00000504294.1:n.*526C>T
ENST00000676747.1:c.696C>T	ENSP00000503244.1:p.Leu232=
ENST00000676840.1:c.696C>T	ENSP00000504318.1:p.Leu232=
ENST00000676884.1:c.696C>T	ENSP00000503200.1:p.Leu232=
ENST00000676888.1:c.696C>T	ENSP00000504483.1:p.Leu232=
ENST00000676907.1:c.*275C>T	ENSP00000504410.1:n.*275C>T
ENST00000676945.1:c.696C>T	ENSP00000504433.1:p.Leu232=
ENST00000677065.1:n.1257C>T
ENST00000677414.1:c.696C>T	ENSP00000503116.1:p.Leu232=
ENST00000677529.1:n.1134C>T
ENST00000677596.1:c.*603C>T	ENSP00000503618.1:n.*603C>T
ENST00000677599.1:c.696C>T	ENSP00000503673.1:p.Leu232=
ENST00000677748.1:n.1134C>T
ENST00000677880.1:c.264C>T	ENSP00000503121.1:p.Leu88=
ENST00000678021.1:c.*319C>T	ENSP00000504674.1:n.*319C>T
ENST00000678233.1:c.696C>T	ENSP00000504728.1:p.Leu232=
ENST00000678320.1:c.696C>T	ENSP00000503680.1:p.Leu232=
ENST00000678655.1:c.696C>T	ENSP00000504230.1:p.Leu232=
ENST00000678706.1:c.696C>T	ENSP00000503659.1:p.Leu232=
ENST00000678776.1:c.*526C>T	ENSP00000504624.1:n.*526C>T
ENST00000678784.1:c.696C>T	ENSP00000504652.1:p.Leu232=
ENST00000678820.1:c.696C>T	ENSP00000504138.1:p.Leu232=
ENST00000678835.1:c.696C>T	ENSP00000504343.1:p.Leu232=
ENST00000679088.1:c.696C>T	ENSP00000504727.1:p.Leu232=
ENST00000679098.1:c.696C>T	ENSP00000504303.1:p.Leu232=
ENST00000366782.5:c.795C>T	ENSP00000355746.1:p.Leu265=
ENST00000366783.7:c.696C>T	ENSP00000355747.3:p.Leu232=
ENST00000422240.6:c.696C>T	ENSP00000403737.2:p.Leu232=
ENST00000460775.5:c.177C>T	ENSP00000427912.1:p.Leu59=
ENST00000472139.2:c.264C>T	ENSP00000427806.1:p.Leu88=
ENST00000626989.2:c.795C>T	ENSP00000486498.1:p.Leu265=
NM_000447.2:c.696C>T	NP_000438.2:p.Leu232=
NM_012486.2:c.696C>T	NP_036618.2:p.Leu232=
XM_005273199.2:c.696C>T	XP_005273256.1:p.Leu232=
XM_011544236.1:c.264C>T	XP_011542538.1:p.Leu88=
XR_949149.1:n.1123C>T
XR_949150.1:n.1123C>T
XM_005273199.4:c.696C>T	XP_005273256.1:p.Leu232=
XM_017001835.1:c.696C>T	XP_016857324.1:p.Leu232=
XM_017001836.1:c.696C>T	XP_016857325.1:p.Leu232=
XR_001737316.2:n.1101C>T
XR_001737317.2:n.1101C>T
XR_001737318.2:n.1101C>T
XR_001737319.1:n.1444C>T
XR_001737320.1:n.1444C>T
XR_001737321.1:n.936C>T
XR_949149.2:n.1101C>T
XR_949150.3:n.1101C>T
NM_000447.3:c.696C>T MANE Select	NP_000438.2:p.Leu232=
NM_012486.3:c.696C>T	NP_036618.2:p.Leu232=