Canonical Allele Identifier: CA38627211

Gene: PSEN2

Linked Data

• dbSNP Id: rs143059995
• gnomAD v3: 1-226895699-G-C
• gnomAD v4: 1-226895699-G-C
• MyVariant Identifiers: chr1:g.227083400G>C (hg19) ; chr1:g.226895699G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895699G>C , CM000663.2:g.226895699G>C	GRCh38
NC_000001.10:g.227083400G>C , CM000663.1:g.227083400G>C	GRCh37
NC_000001.9:g.225150023G>C	NCBI36
NG_007381.1:g.30128G>C
NG_012825.2:g.3164G>C
NG_007381.2:g.30516G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366779.6:c.*120G>C	ENSP00000355741.2:n.*120G>C
ENST00000366782.6:c.*120G>C	ENSP00000355746.2:n.*120G>C
ENST00000366783.8:c.*120G>C MANE Select	ENSP00000355747.3:n.*120G>C
ENST00000471728.2:n.2105G>C
ENST00000524196.6:c.*120G>C	ENSP00000429036.2:n.*120G>C
ENST00000626989.3:c.*120G>C	ENSP00000486498.2:n.*120G>C
ENST00000676467.1:c.*1294G>C	ENSP00000504294.1:n.*1294G>C
ENST00000676747.1:c.1188+1574G>C	ENSP00000503244.1:n.1188+1574G>C
ENST00000676884.1:c.*120G>C	ENSP00000503200.1:n.*120G>C
ENST00000676888.1:c.*808G>C	ENSP00000504483.1:n.*808G>C
ENST00000676907.1:c.*1046G>C	ENSP00000504410.1:n.*1046G>C
ENST00000676945.1:c.1191+1574G>C	ENSP00000504433.1:n.1191+1574G>C
ENST00000677065.1:n.2028G>C
ENST00000677414.1:c.*120G>C	ENSP00000503116.1:n.*120G>C
ENST00000677529.1:n.3197G>C
ENST00000677596.1:c.*1689G>C	ENSP00000503618.1:n.*1689G>C
ENST00000677599.1:c.1191+1574G>C	ENSP00000503673.1:n.1191+1574G>C
ENST00000677748.1:n.3722G>C
ENST00000677880.1:c.*120G>C	ENSP00000503121.1:n.*120G>C
ENST00000678021.1:c.*1090G>C	ENSP00000504674.1:n.*1090G>C
ENST00000678233.1:c.*8+112G>C	ENSP00000504728.1:n.*8+112G>C
ENST00000678320.1:c.*120G>C	ENSP00000503680.1:n.*120G>C
ENST00000678655.1:c.1092+1574G>C	ENSP00000504230.1:n.1092+1574G>C
ENST00000678706.1:c.*844G>C	ENSP00000503659.1:n.*844G>C
ENST00000678776.1:c.*1604G>C	ENSP00000504624.1:n.*1604G>C
ENST00000678784.1:c.1073-2021G>C	ENSP00000504652.1:n.1073-2021G>C
ENST00000678820.1:c.1089+1574G>C	ENSP00000504138.1:n.1089+1574G>C
ENST00000678835.1:c.*757-2021G>C	ENSP00000504343.1:n.*757-2021G>C
ENST00000679088.1:c.*120G>C	ENSP00000504727.1:n.*120G>C
ENST00000679098.1:c.*8+112G>C	ENSP00000504303.1:n.*8+112G>C
ENST00000366782.5:c.*120G>C	ENSP00000355746.1:n.*120G>C
ENST00000366783.7:c.*120G>C	ENSP00000355747.3:n.*120G>C
ENST00000422240.6:c.*120G>C	ENSP00000403737.2:n.*120G>C
ENST00000626989.2:c.1566G>C	ENSP00000486498.1:n.1566G>C
NM_000447.2:c.*120G>C	NP_000438.2:n.*120G>C
NM_012486.2:c.*120G>C	NP_036618.2:n.*120G>C
XM_005273199.2:c.*120G>C	XP_005273256.1:n.*120G>C
XM_011544236.1:c.*120G>C	XP_011542538.1:n.*120G>C
XM_005273199.4:c.*120G>C	XP_005273256.1:n.*120G>C
XM_017001835.1:c.*120G>C	XP_016857324.1:n.*120G>C
XM_017001836.1:c.*120G>C	XP_016857325.1:n.*120G>C
XR_001737316.2:n.1478-2021G>C
XR_001737317.2:n.1478-2021G>C
XR_001737318.2:n.2182G>C
XR_001737319.1:n.2525G>C
XR_001737320.1:n.2522G>C
XR_001737321.1:n.2017G>C
XR_949149.2:n.2179G>C
XR_949150.3:n.2398G>C
NM_000447.3:c.*120G>C MANE Select	NP_000438.2:n.*120G>C
NM_012486.3:c.*120G>C	NP_036618.2:n.*120G>C