Canonical Allele Identifier: CA345044234

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227081812G>C (hg19) ; chr1:g.226894111G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894111G>C , CM000663.2:g.226894111G>C	GRCh38
NC_000001.10:g.227081812G>C , CM000663.1:g.227081812G>C	GRCh37
NC_000001.9:g.225148435G>C	NCBI36
NG_007381.1:g.28540G>C
NG_012825.2:g.1576G>C
NG_007381.2:g.28928G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1177G>C	ENSP00000355741.2:p.Val393Leu
ENST00000366782.6:c.1177G>C	ENSP00000355746.2:p.Val393Leu
ENST00000366783.8:c.1177G>C MANE Select	ENSP00000355747.3:p.Val393Leu
ENST00000471728.2:n.1815G>C
ENST00000524196.6:c.1177G>C	ENSP00000429036.2:p.Val393Leu
ENST00000626989.3:c.1177G>C	ENSP00000486498.2:p.Val393Leu
ENST00000676467.1:c.*1004G>C	ENSP00000504294.1:n.*1004G>C
ENST00000676747.1:c.1174G>C	ENSP00000503244.1:p.Val392Leu
ENST00000676884.1:c.1177G>C	ENSP00000503200.1:p.Val393Leu
ENST00000676888.1:c.*518G>C	ENSP00000504483.1:n.*518G>C
ENST00000676907.1:c.*756G>C	ENSP00000504410.1:n.*756G>C
ENST00000676945.1:c.1177G>C	ENSP00000504433.1:p.Val393Leu
ENST00000677065.1:n.1738G>C
ENST00000677414.1:c.1177G>C	ENSP00000503116.1:p.Val393Leu
ENST00000677529.1:n.2907G>C
ENST00000677596.1:c.*1399G>C	ENSP00000503618.1:n.*1399G>C
ENST00000677599.1:c.1177G>C	ENSP00000503673.1:p.Val393Leu
ENST00000677748.1:n.3432G>C
ENST00000677880.1:c.742G>C	ENSP00000503121.1:p.Val248Leu
ENST00000678021.1:c.*800G>C	ENSP00000504674.1:n.*800G>C
ENST00000678233.1:c.1177G>C	ENSP00000504728.1:p.Val393Leu
ENST00000678320.1:c.1078G>C	ENSP00000503680.1:p.Val360Leu
ENST00000678655.1:c.1078G>C	ENSP00000504230.1:p.Val360Leu
ENST00000678706.1:c.*554G>C	ENSP00000503659.1:n.*554G>C
ENST00000678776.1:c.*1314G>C	ENSP00000504624.1:n.*1314G>C
ENST00000678784.1:c.1072+2267G>C	ENSP00000504652.1:n.1072+2267G>C
ENST00000678820.1:c.1075G>C	ENSP00000504138.1:p.Val359Leu
ENST00000678835.1:c.*756+2267G>C	ENSP00000504343.1:n.*756+2267G>C
ENST00000679088.1:c.1177G>C	ENSP00000504727.1:p.Val393Leu
ENST00000679098.1:c.1177G>C	ENSP00000504303.1:p.Val393Leu
ENST00000366782.5:c.1276G>C	ENSP00000355746.1:p.Val426Leu
ENST00000366783.7:c.1177G>C	ENSP00000355747.3:p.Val393Leu
ENST00000422240.6:c.1174G>C	ENSP00000403737.2:p.Val392Leu
ENST00000471728.1:n.435G>C
ENST00000472139.2:c.745G>C	ENSP00000427806.1:p.Val249Leu
ENST00000626989.2:c.1276G>C	ENSP00000486498.1:p.Val426Leu
NM_000447.2:c.1177G>C	NP_000438.2:p.Val393Leu
NM_012486.2:c.1174G>C	NP_036618.2:p.Val392Leu
XM_005273199.2:c.1177G>C	XP_005273256.1:p.Val393Leu
XM_011544236.1:c.745G>C	XP_011542538.1:p.Val249Leu
XR_949149.1:n.1911G>C
XM_005273199.4:c.1177G>C	XP_005273256.1:p.Val393Leu
XM_017001835.1:c.1177G>C	XP_016857324.1:p.Val393Leu
XM_017001836.1:c.1174G>C	XP_016857325.1:p.Val392Leu
XR_001737316.2:n.1477+2267G>C
XR_001737317.2:n.1477+2267G>C
XR_001737318.2:n.1892G>C
XR_001737319.1:n.2235G>C
XR_001737320.1:n.2232G>C
XR_001737321.1:n.1727G>C
XR_949149.2:n.1889G>C
XR_949150.3:n.2108G>C
NM_000447.3:c.1177G>C MANE Select	NP_000438.2:p.Val393Leu
NM_012486.3:c.1174G>C	NP_036618.2:p.Val392Leu