Canonical Allele Identifier: CA345043886

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227081709G>C (hg19) ; chr1:g.226894008G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894008G>C , CM000663.2:g.226894008G>C	GRCh38
NC_000001.10:g.227081709G>C , CM000663.1:g.227081709G>C	GRCh37
NC_000001.9:g.225148332G>C	NCBI36
NG_007381.1:g.28437G>C
NG_012825.2:g.1473G>C
NG_007381.2:g.28825G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1074G>C	ENSP00000355741.2:p.Arg358Ser
ENST00000366782.6:c.1074G>C	ENSP00000355746.2:p.Arg358Ser
ENST00000366783.8:c.1074G>C MANE Select	ENSP00000355747.3:p.Arg358Ser
ENST00000471728.2:n.1712G>C
ENST00000524196.6:c.1074G>C	ENSP00000429036.2:p.Arg358Ser
ENST00000626989.3:c.1074G>C	ENSP00000486498.2:p.Arg358Ser
ENST00000676467.1:c.*901G>C	ENSP00000504294.1:n.*901G>C
ENST00000676747.1:c.1071G>C	ENSP00000503244.1:p.Arg357Ser
ENST00000676884.1:c.1074G>C	ENSP00000503200.1:p.Arg358Ser
ENST00000676888.1:c.*415G>C	ENSP00000504483.1:n.*415G>C
ENST00000676907.1:c.*653G>C	ENSP00000504410.1:n.*653G>C
ENST00000676945.1:c.1074G>C	ENSP00000504433.1:p.Arg358Ser
ENST00000677065.1:n.1635G>C
ENST00000677414.1:c.1074G>C	ENSP00000503116.1:p.Arg358Ser
ENST00000677529.1:n.2804G>C
ENST00000677596.1:c.*1296G>C	ENSP00000503618.1:n.*1296G>C
ENST00000677599.1:c.1074G>C	ENSP00000503673.1:p.Arg358Ser
ENST00000677748.1:n.3329G>C
ENST00000677880.1:c.639G>C	ENSP00000503121.1:p.Arg213Ser
ENST00000678021.1:c.*697G>C	ENSP00000504674.1:n.*697G>C
ENST00000678233.1:c.1074G>C	ENSP00000504728.1:p.Arg358Ser
ENST00000678320.1:c.975G>C	ENSP00000503680.1:p.Arg325Ser
ENST00000678655.1:c.975G>C	ENSP00000504230.1:p.Arg325Ser
ENST00000678706.1:c.*451G>C	ENSP00000503659.1:n.*451G>C
ENST00000678776.1:c.*1211G>C	ENSP00000504624.1:n.*1211G>C
ENST00000678784.1:c.1072+2164G>C	ENSP00000504652.1:n.1072+2164G>C
ENST00000678820.1:c.972G>C	ENSP00000504138.1:p.Arg324Ser
ENST00000678835.1:c.*756+2164G>C	ENSP00000504343.1:n.*756+2164G>C
ENST00000679088.1:c.1074G>C	ENSP00000504727.1:p.Arg358Ser
ENST00000679098.1:c.1074G>C	ENSP00000504303.1:p.Arg358Ser
ENST00000366782.5:c.1173G>C	ENSP00000355746.1:p.Arg391Ser
ENST00000366783.7:c.1074G>C	ENSP00000355747.3:p.Arg358Ser
ENST00000422240.6:c.1071G>C	ENSP00000403737.2:p.Arg357Ser
ENST00000471728.1:n.332G>C
ENST00000472139.2:c.642G>C	ENSP00000427806.1:p.Arg214Ser
ENST00000626989.2:c.1173G>C	ENSP00000486498.1:p.Arg391Ser
NM_000447.2:c.1074G>C	NP_000438.2:p.Arg358Ser
NM_012486.2:c.1071G>C	NP_036618.2:p.Arg357Ser
XM_005273199.2:c.1074G>C	XP_005273256.1:p.Arg358Ser
XM_011544236.1:c.642G>C	XP_011542538.1:p.Arg214Ser
XR_949149.1:n.1808G>C
XM_005273199.4:c.1074G>C	XP_005273256.1:p.Arg358Ser
XM_017001835.1:c.1074G>C	XP_016857324.1:p.Arg358Ser
XM_017001836.1:c.1071G>C	XP_016857325.1:p.Arg357Ser
XR_001737316.2:n.1477+2164G>C
XR_001737317.2:n.1477+2164G>C
XR_001737318.2:n.1789G>C
XR_001737319.1:n.2132G>C
XR_001737320.1:n.2129G>C
XR_001737321.1:n.1624G>C
XR_949149.2:n.1786G>C
XR_949150.3:n.2005G>C
NM_000447.3:c.1074G>C MANE Select	NP_000438.2:p.Arg358Ser
NM_012486.3:c.1071G>C	NP_036618.2:p.Arg357Ser