Canonical Allele Identifier: CA1424802

Gene: PSEN2

Linked Data

• ClinVar Variation Id: 2777762
• ClinVar RCV Id: RCV003619882 ; RCV003966543
• dbSNP Id: rs201093218
• ExAC: 1:227081727 C / T
• gnomAD v2: 1-227081727-C-T
• gnomAD v3: 1-226894026-C-T
• gnomAD v4: 1-226894026-C-T
• MyVariant Identifiers: chr1:g.227081727C>T (hg19) ; chr1:g.226894026C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894026C>T , CM000663.2:g.226894026C>T	GRCh38
NC_000001.10:g.227081727C>T , CM000663.1:g.227081727C>T	GRCh37
NC_000001.9:g.225148350C>T	NCBI36
NG_007381.1:g.28455C>T
NG_012825.2:g.1491C>T
NG_007381.2:g.28843C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1092C>T	ENSP00000355741.2:p.Leu364=
ENST00000366782.6:c.1092C>T	ENSP00000355746.2:p.Leu364=
ENST00000366783.8:c.1092C>T MANE Select	ENSP00000355747.3:p.Leu364=
ENST00000471728.2:n.1730C>T
ENST00000524196.6:c.1092C>T	ENSP00000429036.2:p.Leu364=
ENST00000626989.3:c.1092C>T	ENSP00000486498.2:p.Leu364=
ENST00000676467.1:c.*919C>T	ENSP00000504294.1:n.*919C>T
ENST00000676747.1:c.1089C>T	ENSP00000503244.1:p.Leu363=
ENST00000676884.1:c.1092C>T	ENSP00000503200.1:p.Leu364=
ENST00000676888.1:c.*433C>T	ENSP00000504483.1:n.*433C>T
ENST00000676907.1:c.*671C>T	ENSP00000504410.1:n.*671C>T
ENST00000676945.1:c.1092C>T	ENSP00000504433.1:p.Leu364=
ENST00000677065.1:n.1653C>T
ENST00000677414.1:c.1092C>T	ENSP00000503116.1:p.Leu364=
ENST00000677529.1:n.2822C>T
ENST00000677596.1:c.*1314C>T	ENSP00000503618.1:n.*1314C>T
ENST00000677599.1:c.1092C>T	ENSP00000503673.1:p.Leu364=
ENST00000677748.1:n.3347C>T
ENST00000677880.1:c.657C>T	ENSP00000503121.1:p.Leu219=
ENST00000678021.1:c.*715C>T	ENSP00000504674.1:n.*715C>T
ENST00000678233.1:c.1092C>T	ENSP00000504728.1:p.Leu364=
ENST00000678320.1:c.993C>T	ENSP00000503680.1:p.Leu331=
ENST00000678655.1:c.993C>T	ENSP00000504230.1:p.Leu331=
ENST00000678706.1:c.*469C>T	ENSP00000503659.1:n.*469C>T
ENST00000678776.1:c.*1229C>T	ENSP00000504624.1:n.*1229C>T
ENST00000678784.1:c.1072+2182C>T	ENSP00000504652.1:n.1072+2182C>T
ENST00000678820.1:c.990C>T	ENSP00000504138.1:p.Leu330=
ENST00000678835.1:c.*756+2182C>T	ENSP00000504343.1:n.*756+2182C>T
ENST00000679088.1:c.1092C>T	ENSP00000504727.1:p.Leu364=
ENST00000679098.1:c.1092C>T	ENSP00000504303.1:p.Leu364=
ENST00000366782.5:c.1191C>T	ENSP00000355746.1:p.Leu397=
ENST00000366783.7:c.1092C>T	ENSP00000355747.3:p.Leu364=
ENST00000422240.6:c.1089C>T	ENSP00000403737.2:p.Leu363=
ENST00000471728.1:n.350C>T
ENST00000472139.2:c.660C>T	ENSP00000427806.1:p.Leu220=
ENST00000626989.2:c.1191C>T	ENSP00000486498.1:p.Leu397=
NM_000447.2:c.1092C>T	NP_000438.2:p.Leu364=
NM_012486.2:c.1089C>T	NP_036618.2:p.Leu363=
XM_005273199.2:c.1092C>T	XP_005273256.1:p.Leu364=
XM_011544236.1:c.660C>T	XP_011542538.1:p.Leu220=
XR_949149.1:n.1826C>T
XM_005273199.4:c.1092C>T	XP_005273256.1:p.Leu364=
XM_017001835.1:c.1092C>T	XP_016857324.1:p.Leu364=
XM_017001836.1:c.1089C>T	XP_016857325.1:p.Leu363=
XR_001737316.2:n.1477+2182C>T
XR_001737317.2:n.1477+2182C>T
XR_001737318.2:n.1807C>T
XR_001737319.1:n.2150C>T
XR_001737320.1:n.2147C>T
XR_001737321.1:n.1642C>T
XR_949149.2:n.1804C>T
XR_949150.3:n.2023C>T
NM_000447.3:c.1092C>T MANE Select	NP_000438.2:p.Leu364=
NM_012486.3:c.1089C>T	NP_036618.2:p.Leu363=