Canonical Allele Identifier: CA345045428

Gene: PSEN2

Linked Data

• gnomAD v4: 1-226895529-C-G
• MyVariant Identifiers: chr1:g.227083230C>G (hg19) ; chr1:g.226895529C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895529C>G , CM000663.2:g.226895529C>G	GRCh38
NC_000001.10:g.227083230C>G , CM000663.1:g.227083230C>G	GRCh37
NC_000001.9:g.225149853C>G	NCBI36
NG_007381.1:g.29958C>G
NG_012825.2:g.2994C>G
NG_007381.2:g.30346C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1297C>G	ENSP00000355741.2:p.Leu433Val
ENST00000366782.6:c.1297C>G	ENSP00000355746.2:p.Leu433Val
ENST00000366783.8:c.1297C>G MANE Select	ENSP00000355747.3:p.Leu433Val
ENST00000471728.2:n.1935C>G
ENST00000524196.6:c.1297C>G	ENSP00000429036.2:p.Leu433Val
ENST00000626989.3:c.1297C>G	ENSP00000486498.2:p.Leu433Val
ENST00000676467.1:c.*1124C>G	ENSP00000504294.1:n.*1124C>G
ENST00000676747.1:c.1188+1404C>G	ENSP00000503244.1:n.1188+1404C>G
ENST00000676884.1:c.1297C>G	ENSP00000503200.1:p.Leu433Val
ENST00000676888.1:c.*638C>G	ENSP00000504483.1:n.*638C>G
ENST00000676907.1:c.*876C>G	ENSP00000504410.1:n.*876C>G
ENST00000676945.1:c.1191+1404C>G	ENSP00000504433.1:n.1191+1404C>G
ENST00000677065.1:n.1858C>G
ENST00000677414.1:c.1297C>G	ENSP00000503116.1:p.Leu433Val
ENST00000677529.1:n.3027C>G
ENST00000677596.1:c.*1519C>G	ENSP00000503618.1:n.*1519C>G
ENST00000677599.1:c.1191+1404C>G	ENSP00000503673.1:n.1191+1404C>G
ENST00000677748.1:n.3552C>G
ENST00000677880.1:c.862C>G	ENSP00000503121.1:p.Leu288Val
ENST00000678021.1:c.*920C>G	ENSP00000504674.1:n.*920C>G
ENST00000678233.1:c.1297C>G	ENSP00000504728.1:p.Leu433Val
ENST00000678320.1:c.1198C>G	ENSP00000503680.1:p.Leu400Val
ENST00000678655.1:c.1092+1404C>G	ENSP00000504230.1:n.1092+1404C>G
ENST00000678706.1:c.*674C>G	ENSP00000503659.1:n.*674C>G
ENST00000678776.1:c.*1434C>G	ENSP00000504624.1:n.*1434C>G
ENST00000678784.1:c.1073-2191C>G	ENSP00000504652.1:n.1073-2191C>G
ENST00000678820.1:c.1089+1404C>G	ENSP00000504138.1:n.1089+1404C>G
ENST00000678835.1:c.*757-2191C>G	ENSP00000504343.1:n.*757-2191C>G
ENST00000679088.1:c.1297C>G	ENSP00000504727.1:p.Leu433Val
ENST00000679098.1:c.1297C>G	ENSP00000504303.1:p.Leu433Val
ENST00000366782.5:c.1396C>G	ENSP00000355746.1:p.Leu466Val
ENST00000366783.7:c.1297C>G	ENSP00000355747.3:p.Leu433Val
ENST00000422240.6:c.1294C>G	ENSP00000403737.2:p.Leu432Val
ENST00000471728.1:n.555C>G
ENST00000472139.2:c.865C>G	ENSP00000427806.1:p.Leu289Val
ENST00000626989.2:c.1396C>G	ENSP00000486498.1:p.Leu466Val
NM_000447.2:c.1297C>G	NP_000438.2:p.Leu433Val
NM_012486.2:c.1294C>G	NP_036618.2:p.Leu432Val
XM_005273199.2:c.1297C>G	XP_005273256.1:p.Leu433Val
XM_011544236.1:c.865C>G	XP_011542538.1:p.Leu289Val
XR_949149.1:n.2031C>G
XM_005273199.4:c.1297C>G	XP_005273256.1:p.Leu433Val
XM_017001835.1:c.1297C>G	XP_016857324.1:p.Leu433Val
XM_017001836.1:c.1294C>G	XP_016857325.1:p.Leu432Val
XR_001737316.2:n.1478-2191C>G
XR_001737317.2:n.1478-2191C>G
XR_001737318.2:n.2012C>G
XR_001737319.1:n.2355C>G
XR_001737320.1:n.2352C>G
XR_001737321.1:n.1847C>G
XR_949149.2:n.2009C>G
XR_949150.3:n.2228C>G
NM_000447.3:c.1297C>G MANE Select	NP_000438.2:p.Leu433Val
NM_012486.3:c.1294C>G	NP_036618.2:p.Leu432Val