Canonical Allele Identifier: CA345045435

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227083231T>G (hg19) ; chr1:g.226895530T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895530T>G , CM000663.2:g.226895530T>G	GRCh38
NC_000001.10:g.227083231T>G , CM000663.1:g.227083231T>G	GRCh37
NC_000001.9:g.225149854T>G	NCBI36
NG_007381.1:g.29959T>G
NG_012825.2:g.2995T>G
NG_007381.2:g.30347T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1298T>G	ENSP00000355741.2:p.Leu433Arg
ENST00000366782.6:c.1298T>G	ENSP00000355746.2:p.Leu433Arg
ENST00000366783.8:c.1298T>G MANE Select	ENSP00000355747.3:p.Leu433Arg
ENST00000471728.2:n.1936T>G
ENST00000524196.6:c.1298T>G	ENSP00000429036.2:p.Leu433Arg
ENST00000626989.3:c.1298T>G	ENSP00000486498.2:p.Leu433Arg
ENST00000676467.1:c.*1125T>G	ENSP00000504294.1:n.*1125T>G
ENST00000676747.1:c.1188+1405T>G	ENSP00000503244.1:n.1188+1405T>G
ENST00000676884.1:c.1298T>G	ENSP00000503200.1:p.Leu433Arg
ENST00000676888.1:c.*639T>G	ENSP00000504483.1:n.*639T>G
ENST00000676907.1:c.*877T>G	ENSP00000504410.1:n.*877T>G
ENST00000676945.1:c.1191+1405T>G	ENSP00000504433.1:n.1191+1405T>G
ENST00000677065.1:n.1859T>G
ENST00000677414.1:c.1298T>G	ENSP00000503116.1:p.Leu433Arg
ENST00000677529.1:n.3028T>G
ENST00000677596.1:c.*1520T>G	ENSP00000503618.1:n.*1520T>G
ENST00000677599.1:c.1191+1405T>G	ENSP00000503673.1:n.1191+1405T>G
ENST00000677748.1:n.3553T>G
ENST00000677880.1:c.863T>G	ENSP00000503121.1:p.Leu288Arg
ENST00000678021.1:c.*921T>G	ENSP00000504674.1:n.*921T>G
ENST00000678233.1:c.1298T>G	ENSP00000504728.1:p.Leu433Arg
ENST00000678320.1:c.1199T>G	ENSP00000503680.1:p.Leu400Arg
ENST00000678655.1:c.1092+1405T>G	ENSP00000504230.1:n.1092+1405T>G
ENST00000678706.1:c.*675T>G	ENSP00000503659.1:n.*675T>G
ENST00000678776.1:c.*1435T>G	ENSP00000504624.1:n.*1435T>G
ENST00000678784.1:c.1073-2190T>G	ENSP00000504652.1:n.1073-2190T>G
ENST00000678820.1:c.1089+1405T>G	ENSP00000504138.1:n.1089+1405T>G
ENST00000678835.1:c.*757-2190T>G	ENSP00000504343.1:n.*757-2190T>G
ENST00000679088.1:c.1298T>G	ENSP00000504727.1:p.Leu433Arg
ENST00000679098.1:c.1298T>G	ENSP00000504303.1:p.Leu433Arg
ENST00000366782.5:c.1397T>G	ENSP00000355746.1:p.Leu466Arg
ENST00000366783.7:c.1298T>G	ENSP00000355747.3:p.Leu433Arg
ENST00000422240.6:c.1295T>G	ENSP00000403737.2:p.Leu432Arg
ENST00000471728.1:n.556T>G
ENST00000472139.2:c.866T>G	ENSP00000427806.1:p.Leu289Arg
ENST00000626989.2:c.1397T>G	ENSP00000486498.1:p.Leu466Arg
NM_000447.2:c.1298T>G	NP_000438.2:p.Leu433Arg
NM_012486.2:c.1295T>G	NP_036618.2:p.Leu432Arg
XM_005273199.2:c.1298T>G	XP_005273256.1:p.Leu433Arg
XM_011544236.1:c.866T>G	XP_011542538.1:p.Leu289Arg
XR_949149.1:n.2032T>G
XM_005273199.4:c.1298T>G	XP_005273256.1:p.Leu433Arg
XM_017001835.1:c.1298T>G	XP_016857324.1:p.Leu433Arg
XM_017001836.1:c.1295T>G	XP_016857325.1:p.Leu432Arg
XR_001737316.2:n.1478-2190T>G
XR_001737317.2:n.1478-2190T>G
XR_001737318.2:n.2013T>G
XR_001737319.1:n.2356T>G
XR_001737320.1:n.2353T>G
XR_001737321.1:n.1848T>G
XR_949149.2:n.2010T>G
XR_949150.3:n.2229T>G
NM_000447.3:c.1298T>G MANE Select	NP_000438.2:p.Leu433Arg
NM_012486.3:c.1295T>G	NP_036618.2:p.Leu432Arg