Canonical Allele Identifier: CA345045028

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227083182C>G (hg19) ; chr1:g.226895481C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895481C>G , CM000663.2:g.226895481C>G	GRCh38
NC_000001.10:g.227083182C>G , CM000663.1:g.227083182C>G	GRCh37
NC_000001.9:g.225149805C>G	NCBI36
NG_007381.1:g.29910C>G
NG_012825.2:g.2946C>G
NG_007381.2:g.30298C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1249C>G	ENSP00000355741.2:p.Pro417Ala
ENST00000366782.6:c.1249C>G	ENSP00000355746.2:p.Pro417Ala
ENST00000366783.8:c.1249C>G MANE Select	ENSP00000355747.3:p.Pro417Ala
ENST00000471728.2:n.1887C>G
ENST00000524196.6:c.1249C>G	ENSP00000429036.2:p.Pro417Ala
ENST00000626989.3:c.1249C>G	ENSP00000486498.2:p.Pro417Ala
ENST00000676467.1:c.*1076C>G	ENSP00000504294.1:n.*1076C>G
ENST00000676747.1:c.1188+1356C>G	ENSP00000503244.1:n.1188+1356C>G
ENST00000676884.1:c.1249C>G	ENSP00000503200.1:p.Pro417Ala
ENST00000676888.1:c.*590C>G	ENSP00000504483.1:n.*590C>G
ENST00000676907.1:c.*828C>G	ENSP00000504410.1:n.*828C>G
ENST00000676945.1:c.1191+1356C>G	ENSP00000504433.1:n.1191+1356C>G
ENST00000677065.1:n.1810C>G
ENST00000677414.1:c.1249C>G	ENSP00000503116.1:p.Pro417Ala
ENST00000677529.1:n.2979C>G
ENST00000677596.1:c.*1471C>G	ENSP00000503618.1:n.*1471C>G
ENST00000677599.1:c.1191+1356C>G	ENSP00000503673.1:n.1191+1356C>G
ENST00000677748.1:n.3504C>G
ENST00000677880.1:c.814C>G	ENSP00000503121.1:p.Pro272Ala
ENST00000678021.1:c.*872C>G	ENSP00000504674.1:n.*872C>G
ENST00000678233.1:c.1249C>G	ENSP00000504728.1:p.Pro417Ala
ENST00000678320.1:c.1150C>G	ENSP00000503680.1:p.Pro384Ala
ENST00000678655.1:c.1092+1356C>G	ENSP00000504230.1:n.1092+1356C>G
ENST00000678706.1:c.*626C>G	ENSP00000503659.1:n.*626C>G
ENST00000678776.1:c.*1386C>G	ENSP00000504624.1:n.*1386C>G
ENST00000678784.1:c.1073-2239C>G	ENSP00000504652.1:n.1073-2239C>G
ENST00000678820.1:c.1089+1356C>G	ENSP00000504138.1:n.1089+1356C>G
ENST00000678835.1:c.*757-2239C>G	ENSP00000504343.1:n.*757-2239C>G
ENST00000679088.1:c.1249C>G	ENSP00000504727.1:p.Pro417Ala
ENST00000679098.1:c.1249C>G	ENSP00000504303.1:p.Pro417Ala
ENST00000366782.5:c.1348C>G	ENSP00000355746.1:p.Pro450Ala
ENST00000366783.7:c.1249C>G	ENSP00000355747.3:p.Pro417Ala
ENST00000422240.6:c.1246C>G	ENSP00000403737.2:p.Pro416Ala
ENST00000471728.1:n.507C>G
ENST00000472139.2:c.817C>G	ENSP00000427806.1:p.Pro273Ala
ENST00000626989.2:c.1348C>G	ENSP00000486498.1:p.Pro450Ala
NM_000447.2:c.1249C>G	NP_000438.2:p.Pro417Ala
NM_012486.2:c.1246C>G	NP_036618.2:p.Pro416Ala
XM_005273199.2:c.1249C>G	XP_005273256.1:p.Pro417Ala
XM_011544236.1:c.817C>G	XP_011542538.1:p.Pro273Ala
XR_949149.1:n.1983C>G
XM_005273199.4:c.1249C>G	XP_005273256.1:p.Pro417Ala
XM_017001835.1:c.1249C>G	XP_016857324.1:p.Pro417Ala
XM_017001836.1:c.1246C>G	XP_016857325.1:p.Pro416Ala
XR_001737316.2:n.1478-2239C>G
XR_001737317.2:n.1478-2239C>G
XR_001737318.2:n.1964C>G
XR_001737319.1:n.2307C>G
XR_001737320.1:n.2304C>G
XR_001737321.1:n.1799C>G
XR_949149.2:n.1961C>G
XR_949150.3:n.2180C>G
NM_000447.3:c.1249C>G MANE Select	NP_000438.2:p.Pro417Ala
NM_012486.3:c.1246C>G	NP_036618.2:p.Pro416Ala