Canonical Allele Identifier: CA1424826

Gene: PSEN2

Linked Data

• dbSNP Id: rs768931743
• ExAC: 1:227081824 A / C
• gnomAD v2: 1-227081824-A-C
• MyVariant Identifiers: chr1:g.227081824A>C (hg19) ; chr1:g.226894123A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894123A>C , CM000663.2:g.226894123A>C	GRCh38
NC_000001.10:g.227081824A>C , CM000663.1:g.227081824A>C	GRCh37
NC_000001.9:g.225148447A>C	NCBI36
NG_007381.1:g.28552A>C
NG_012825.2:g.1588A>C
NG_007381.2:g.28940A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1189A>C	ENSP00000355741.2:p.Ile397Leu
ENST00000366782.6:c.1189A>C	ENSP00000355746.2:p.Ile397Leu
ENST00000366783.8:c.1189A>C MANE Select	ENSP00000355747.3:p.Ile397Leu
ENST00000471728.2:n.1827A>C
ENST00000524196.6:c.1189A>C	ENSP00000429036.2:p.Ile397Leu
ENST00000626989.3:c.1189A>C	ENSP00000486498.2:p.Ile397Leu
ENST00000676467.1:c.*1016A>C	ENSP00000504294.1:n.*1016A>C
ENST00000676747.1:c.1186A>C	ENSP00000503244.1:p.Ile396Leu
ENST00000676884.1:c.1189A>C	ENSP00000503200.1:p.Ile397Leu
ENST00000676888.1:c.*530A>C	ENSP00000504483.1:n.*530A>C
ENST00000676907.1:c.*768A>C	ENSP00000504410.1:n.*768A>C
ENST00000676945.1:c.1189A>C	ENSP00000504433.1:p.Ile397Leu
ENST00000677065.1:n.1750A>C
ENST00000677414.1:c.1189A>C	ENSP00000503116.1:p.Ile397Leu
ENST00000677529.1:n.2919A>C
ENST00000677596.1:c.*1411A>C	ENSP00000503618.1:n.*1411A>C
ENST00000677599.1:c.1189A>C	ENSP00000503673.1:p.Ile397Leu
ENST00000677748.1:n.3444A>C
ENST00000677880.1:c.754A>C	ENSP00000503121.1:p.Ile252Leu
ENST00000678021.1:c.*812A>C	ENSP00000504674.1:n.*812A>C
ENST00000678233.1:c.1189A>C	ENSP00000504728.1:p.Ile397Leu
ENST00000678320.1:c.1090A>C	ENSP00000503680.1:p.Ile364Leu
ENST00000678655.1:c.1090A>C	ENSP00000504230.1:p.Ile364Leu
ENST00000678706.1:c.*566A>C	ENSP00000503659.1:n.*566A>C
ENST00000678776.1:c.*1326A>C	ENSP00000504624.1:n.*1326A>C
ENST00000678784.1:c.1072+2279A>C	ENSP00000504652.1:n.1072+2279A>C
ENST00000678820.1:c.1087A>C	ENSP00000504138.1:p.Ile363Leu
ENST00000678835.1:c.*756+2279A>C	ENSP00000504343.1:n.*756+2279A>C
ENST00000679088.1:c.1189A>C	ENSP00000504727.1:p.Ile397Leu
ENST00000679098.1:c.1189A>C	ENSP00000504303.1:p.Ile397Leu
ENST00000366782.5:c.1288A>C	ENSP00000355746.1:p.Ile430Leu
ENST00000366783.7:c.1189A>C	ENSP00000355747.3:p.Ile397Leu
ENST00000422240.6:c.1186A>C	ENSP00000403737.2:p.Ile396Leu
ENST00000471728.1:n.447A>C
ENST00000472139.2:c.757A>C	ENSP00000427806.1:p.Ile253Leu
ENST00000626989.2:c.1288A>C	ENSP00000486498.1:p.Ile430Leu
NM_000447.2:c.1189A>C	NP_000438.2:p.Ile397Leu
NM_012486.2:c.1186A>C	NP_036618.2:p.Ile396Leu
XM_005273199.2:c.1189A>C	XP_005273256.1:p.Ile397Leu
XM_011544236.1:c.757A>C	XP_011542538.1:p.Ile253Leu
XR_949149.1:n.1923A>C
XM_005273199.4:c.1189A>C	XP_005273256.1:p.Ile397Leu
XM_017001835.1:c.1189A>C	XP_016857324.1:p.Ile397Leu
XM_017001836.1:c.1186A>C	XP_016857325.1:p.Ile396Leu
XR_001737316.2:n.1477+2279A>C
XR_001737317.2:n.1477+2279A>C
XR_001737318.2:n.1904A>C
XR_001737319.1:n.2247A>C
XR_001737320.1:n.2244A>C
XR_001737321.1:n.1739A>C
XR_949149.2:n.1901A>C
XR_949150.3:n.2120A>C
NM_000447.3:c.1189A>C MANE Select	NP_000438.2:p.Ile397Leu
NM_012486.3:c.1186A>C	NP_036618.2:p.Ile396Leu