Canonical Allele Identifier: CA423520772

Gene: PSEN2

Linked Data

• ClinVar Variation Id: 3055236
• ClinVar RCV Id: RCV003954944
• dbSNP Id: rs1553269834
• gnomAD v4: 1-226895504-C-T
• MyVariant Identifiers: chr1:g.227083205C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895504C>T , CM000663.2:g.226895504C>T	GRCh38
NC_000001.10:g.227083205C>T , CM000663.1:g.227083205C>T	GRCh37
NC_000001.9:g.225149828C>T	NCBI36
NG_007381.1:g.29933C>T
NG_012825.2:g.2969C>T
NG_007381.2:g.30321C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1272C>T	ENSP00000355741.2:p.Leu424=
ENST00000366782.6:c.1272C>T	ENSP00000355746.2:p.Leu424=
ENST00000366783.8:c.1272C>T MANE Select	ENSP00000355747.3:p.Leu424=
ENST00000471728.2:n.1910C>T
ENST00000524196.6:c.1272C>T	ENSP00000429036.2:p.Leu424=
ENST00000626989.3:c.1272C>T	ENSP00000486498.2:p.Leu424=
ENST00000676467.1:c.*1099C>T	ENSP00000504294.1:n.*1099C>T
ENST00000676747.1:c.1188+1379C>T	ENSP00000503244.1:n.1188+1379C>T
ENST00000676884.1:c.1272C>T	ENSP00000503200.1:p.Leu424=
ENST00000676888.1:c.*613C>T	ENSP00000504483.1:n.*613C>T
ENST00000676907.1:c.*851C>T	ENSP00000504410.1:n.*851C>T
ENST00000676945.1:c.1191+1379C>T	ENSP00000504433.1:n.1191+1379C>T
ENST00000677065.1:n.1833C>T
ENST00000677414.1:c.1272C>T	ENSP00000503116.1:p.Leu424=
ENST00000677529.1:n.3002C>T
ENST00000677596.1:c.*1494C>T	ENSP00000503618.1:n.*1494C>T
ENST00000677599.1:c.1191+1379C>T	ENSP00000503673.1:n.1191+1379C>T
ENST00000677748.1:n.3527C>T
ENST00000677880.1:c.837C>T	ENSP00000503121.1:p.Leu279=
ENST00000678021.1:c.*895C>T	ENSP00000504674.1:n.*895C>T
ENST00000678233.1:c.1272C>T	ENSP00000504728.1:p.Leu424=
ENST00000678320.1:c.1173C>T	ENSP00000503680.1:p.Leu391=
ENST00000678655.1:c.1092+1379C>T	ENSP00000504230.1:n.1092+1379C>T
ENST00000678706.1:c.*649C>T	ENSP00000503659.1:n.*649C>T
ENST00000678776.1:c.*1409C>T	ENSP00000504624.1:n.*1409C>T
ENST00000678784.1:c.1073-2216C>T	ENSP00000504652.1:n.1073-2216C>T
ENST00000678820.1:c.1089+1379C>T	ENSP00000504138.1:n.1089+1379C>T
ENST00000678835.1:c.*757-2216C>T	ENSP00000504343.1:n.*757-2216C>T
ENST00000679088.1:c.1272C>T	ENSP00000504727.1:p.Leu424=
ENST00000679098.1:c.1272C>T	ENSP00000504303.1:p.Leu424=
ENST00000366782.5:c.1371C>T	ENSP00000355746.1:p.Leu457=
ENST00000366783.7:c.1272C>T	ENSP00000355747.3:p.Leu424=
ENST00000422240.6:c.1269C>T	ENSP00000403737.2:p.Leu423=
ENST00000471728.1:n.530C>T
ENST00000472139.2:c.840C>T	ENSP00000427806.1:p.Leu280=
ENST00000626989.2:c.1371C>T	ENSP00000486498.1:p.Leu457=
NM_000447.2:c.1272C>T	NP_000438.2:p.Leu424=
NM_012486.2:c.1269C>T	NP_036618.2:p.Leu423=
XM_005273199.2:c.1272C>T	XP_005273256.1:p.Leu424=
XM_011544236.1:c.840C>T	XP_011542538.1:p.Leu280=
XR_949149.1:n.2006C>T
XM_005273199.4:c.1272C>T	XP_005273256.1:p.Leu424=
XM_017001835.1:c.1272C>T	XP_016857324.1:p.Leu424=
XM_017001836.1:c.1269C>T	XP_016857325.1:p.Leu423=
XR_001737316.2:n.1478-2216C>T
XR_001737317.2:n.1478-2216C>T
XR_001737318.2:n.1987C>T
XR_001737319.1:n.2330C>T
XR_001737320.1:n.2327C>T
XR_001737321.1:n.1822C>T
XR_949149.2:n.1984C>T
XR_949150.3:n.2203C>T
NM_000447.3:c.1272C>T MANE Select	NP_000438.2:p.Leu424=
NM_012486.3:c.1269C>T	NP_036618.2:p.Leu423=