Canonical Allele Identifier: CA345043888

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227081710G>C (hg19) ; chr1:g.226894009G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894009G>C , CM000663.2:g.226894009G>C	GRCh38
NC_000001.10:g.227081710G>C , CM000663.1:g.227081710G>C	GRCh37
NC_000001.9:g.225148333G>C	NCBI36
NG_007381.1:g.28438G>C
NG_012825.2:g.1474G>C
NG_007381.2:g.28826G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1075G>C	ENSP00000355741.2:p.Gly359Arg
ENST00000366782.6:c.1075G>C	ENSP00000355746.2:p.Gly359Arg
ENST00000366783.8:c.1075G>C MANE Select	ENSP00000355747.3:p.Gly359Arg
ENST00000471728.2:n.1713G>C
ENST00000524196.6:c.1075G>C	ENSP00000429036.2:p.Gly359Arg
ENST00000626989.3:c.1075G>C	ENSP00000486498.2:p.Gly359Arg
ENST00000676467.1:c.*902G>C	ENSP00000504294.1:n.*902G>C
ENST00000676747.1:c.1072G>C	ENSP00000503244.1:p.Gly358Arg
ENST00000676884.1:c.1075G>C	ENSP00000503200.1:p.Gly359Arg
ENST00000676888.1:c.*416G>C	ENSP00000504483.1:n.*416G>C
ENST00000676907.1:c.*654G>C	ENSP00000504410.1:n.*654G>C
ENST00000676945.1:c.1075G>C	ENSP00000504433.1:p.Gly359Arg
ENST00000677065.1:n.1636G>C
ENST00000677414.1:c.1075G>C	ENSP00000503116.1:p.Gly359Arg
ENST00000677529.1:n.2805G>C
ENST00000677596.1:c.*1297G>C	ENSP00000503618.1:n.*1297G>C
ENST00000677599.1:c.1075G>C	ENSP00000503673.1:p.Gly359Arg
ENST00000677748.1:n.3330G>C
ENST00000677880.1:c.640G>C	ENSP00000503121.1:p.Gly214Arg
ENST00000678021.1:c.*698G>C	ENSP00000504674.1:n.*698G>C
ENST00000678233.1:c.1075G>C	ENSP00000504728.1:p.Gly359Arg
ENST00000678320.1:c.976G>C	ENSP00000503680.1:p.Gly326Arg
ENST00000678655.1:c.976G>C	ENSP00000504230.1:p.Gly326Arg
ENST00000678706.1:c.*452G>C	ENSP00000503659.1:n.*452G>C
ENST00000678776.1:c.*1212G>C	ENSP00000504624.1:n.*1212G>C
ENST00000678784.1:c.1072+2165G>C	ENSP00000504652.1:n.1072+2165G>C
ENST00000678820.1:c.973G>C	ENSP00000504138.1:p.Gly325Arg
ENST00000678835.1:c.*756+2165G>C	ENSP00000504343.1:n.*756+2165G>C
ENST00000679088.1:c.1075G>C	ENSP00000504727.1:p.Gly359Arg
ENST00000679098.1:c.1075G>C	ENSP00000504303.1:p.Gly359Arg
ENST00000366782.5:c.1174G>C	ENSP00000355746.1:p.Gly392Arg
ENST00000366783.7:c.1075G>C	ENSP00000355747.3:p.Gly359Arg
ENST00000422240.6:c.1072G>C	ENSP00000403737.2:p.Gly358Arg
ENST00000471728.1:n.333G>C
ENST00000472139.2:c.643G>C	ENSP00000427806.1:p.Gly215Arg
ENST00000626989.2:c.1174G>C	ENSP00000486498.1:p.Gly392Arg
NM_000447.2:c.1075G>C	NP_000438.2:p.Gly359Arg
NM_012486.2:c.1072G>C	NP_036618.2:p.Gly358Arg
XM_005273199.2:c.1075G>C	XP_005273256.1:p.Gly359Arg
XM_011544236.1:c.643G>C	XP_011542538.1:p.Gly215Arg
XR_949149.1:n.1809G>C
XM_005273199.4:c.1075G>C	XP_005273256.1:p.Gly359Arg
XM_017001835.1:c.1075G>C	XP_016857324.1:p.Gly359Arg
XM_017001836.1:c.1072G>C	XP_016857325.1:p.Gly358Arg
XR_001737316.2:n.1477+2165G>C
XR_001737317.2:n.1477+2165G>C
XR_001737318.2:n.1790G>C
XR_001737319.1:n.2133G>C
XR_001737320.1:n.2130G>C
XR_001737321.1:n.1625G>C
XR_949149.2:n.1787G>C
XR_949150.3:n.2006G>C
NM_000447.3:c.1075G>C MANE Select	NP_000438.2:p.Gly359Arg
NM_012486.3:c.1072G>C	NP_036618.2:p.Gly358Arg