Canonical Allele Identifier: CA345043946

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227081737A>C (hg19) ; chr1:g.226894036A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894036A>C , CM000663.2:g.226894036A>C	GRCh38
NC_000001.10:g.227081737A>C , CM000663.1:g.227081737A>C	GRCh37
NC_000001.9:g.225148360A>C	NCBI36
NG_007381.1:g.28465A>C
NG_012825.2:g.1501A>C
NG_007381.2:g.28853A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1102A>C	ENSP00000355741.2:p.Ile368Leu
ENST00000366782.6:c.1102A>C	ENSP00000355746.2:p.Ile368Leu
ENST00000366783.8:c.1102A>C MANE Select	ENSP00000355747.3:p.Ile368Leu
ENST00000471728.2:n.1740A>C
ENST00000524196.6:c.1102A>C	ENSP00000429036.2:p.Ile368Leu
ENST00000626989.3:c.1102A>C	ENSP00000486498.2:p.Ile368Leu
ENST00000676467.1:c.*929A>C	ENSP00000504294.1:n.*929A>C
ENST00000676747.1:c.1099A>C	ENSP00000503244.1:p.Ile367Leu
ENST00000676884.1:c.1102A>C	ENSP00000503200.1:p.Ile368Leu
ENST00000676888.1:c.*443A>C	ENSP00000504483.1:n.*443A>C
ENST00000676907.1:c.*681A>C	ENSP00000504410.1:n.*681A>C
ENST00000676945.1:c.1102A>C	ENSP00000504433.1:p.Ile368Leu
ENST00000677065.1:n.1663A>C
ENST00000677414.1:c.1102A>C	ENSP00000503116.1:p.Ile368Leu
ENST00000677529.1:n.2832A>C
ENST00000677596.1:c.*1324A>C	ENSP00000503618.1:n.*1324A>C
ENST00000677599.1:c.1102A>C	ENSP00000503673.1:p.Ile368Leu
ENST00000677748.1:n.3357A>C
ENST00000677880.1:c.667A>C	ENSP00000503121.1:p.Ile223Leu
ENST00000678021.1:c.*725A>C	ENSP00000504674.1:n.*725A>C
ENST00000678233.1:c.1102A>C	ENSP00000504728.1:p.Ile368Leu
ENST00000678320.1:c.1003A>C	ENSP00000503680.1:p.Ile335Leu
ENST00000678655.1:c.1003A>C	ENSP00000504230.1:p.Ile335Leu
ENST00000678706.1:c.*479A>C	ENSP00000503659.1:n.*479A>C
ENST00000678776.1:c.*1239A>C	ENSP00000504624.1:n.*1239A>C
ENST00000678784.1:c.1072+2192A>C	ENSP00000504652.1:n.1072+2192A>C
ENST00000678820.1:c.1000A>C	ENSP00000504138.1:p.Ile334Leu
ENST00000678835.1:c.*756+2192A>C	ENSP00000504343.1:n.*756+2192A>C
ENST00000679088.1:c.1102A>C	ENSP00000504727.1:p.Ile368Leu
ENST00000679098.1:c.1102A>C	ENSP00000504303.1:p.Ile368Leu
ENST00000366782.5:c.1201A>C	ENSP00000355746.1:p.Ile401Leu
ENST00000366783.7:c.1102A>C	ENSP00000355747.3:p.Ile368Leu
ENST00000422240.6:c.1099A>C	ENSP00000403737.2:p.Ile367Leu
ENST00000471728.1:n.360A>C
ENST00000472139.2:c.670A>C	ENSP00000427806.1:p.Ile224Leu
ENST00000626989.2:c.1201A>C	ENSP00000486498.1:p.Ile401Leu
NM_000447.2:c.1102A>C	NP_000438.2:p.Ile368Leu
NM_012486.2:c.1099A>C	NP_036618.2:p.Ile367Leu
XM_005273199.2:c.1102A>C	XP_005273256.1:p.Ile368Leu
XM_011544236.1:c.670A>C	XP_011542538.1:p.Ile224Leu
XR_949149.1:n.1836A>C
XM_005273199.4:c.1102A>C	XP_005273256.1:p.Ile368Leu
XM_017001835.1:c.1102A>C	XP_016857324.1:p.Ile368Leu
XM_017001836.1:c.1099A>C	XP_016857325.1:p.Ile367Leu
XR_001737316.2:n.1477+2192A>C
XR_001737317.2:n.1477+2192A>C
XR_001737318.2:n.1817A>C
XR_001737319.1:n.2160A>C
XR_001737320.1:n.2157A>C
XR_001737321.1:n.1652A>C
XR_949149.2:n.1814A>C
XR_949150.3:n.2033A>C
NM_000447.3:c.1102A>C MANE Select	NP_000438.2:p.Ile368Leu
NM_012486.3:c.1099A>C	NP_036618.2:p.Ile367Leu