Canonical Allele Identifier: CA345329603

Gene: PSEN2

Linked Data

• dbSNP Id: rs765144719
• gnomAD v4: 1-226883766-T-G
• MyVariant Identifiers: chr1:g.227071467T>G (hg19) ; chr1:g.226883766T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226883766T>G , CM000663.2:g.226883766T>G	GRCh38
NC_000001.10:g.227071467T>G , CM000663.1:g.227071467T>G	GRCh37
NC_000001.9:g.225138090T>G	NCBI36
NG_007381.1:g.18195T>G
NG_007381.2:g.18583T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.203T>G	ENSP00000355741.2:p.Val68Gly
ENST00000366782.6:c.203T>G	ENSP00000355746.2:p.Val68Gly
ENST00000366783.8:c.203T>G MANE Select	ENSP00000355747.3:p.Val68Gly
ENST00000524196.6:c.203T>G	ENSP00000429036.2:p.Val68Gly
ENST00000626989.3:c.203T>G	ENSP00000486498.2:p.Val68Gly
ENST00000676467.1:c.*33T>G	ENSP00000504294.1:n.*33T>G
ENST00000676747.1:c.203T>G	ENSP00000503244.1:p.Val68Gly
ENST00000676840.1:c.203T>G	ENSP00000504318.1:p.Val68Gly
ENST00000676884.1:c.203T>G	ENSP00000503200.1:p.Val68Gly
ENST00000676888.1:c.203T>G	ENSP00000504483.1:p.Val68Gly
ENST00000676907.1:c.203T>G	ENSP00000504410.1:p.Val68Gly
ENST00000676945.1:c.203T>G	ENSP00000504433.1:p.Val68Gly
ENST00000677065.1:n.764T>G
ENST00000677414.1:c.203T>G	ENSP00000503116.1:p.Val68Gly
ENST00000677529.1:n.641T>G
ENST00000677596.1:c.*33T>G	ENSP00000503618.1:n.*33T>G
ENST00000677599.1:c.203T>G	ENSP00000503673.1:p.Val68Gly
ENST00000677748.1:n.641T>G
ENST00000677880.1:c.-153-1695T>G	ENSP00000503121.1:n.-153-1695T>G
ENST00000678021.1:c.141+1718T>G	ENSP00000504674.1:n.141+1718T>G
ENST00000678233.1:c.203T>G	ENSP00000504728.1:p.Val68Gly
ENST00000678320.1:c.203T>G	ENSP00000503680.1:p.Val68Gly
ENST00000678655.1:c.203T>G	ENSP00000504230.1:p.Val68Gly
ENST00000678706.1:c.203T>G	ENSP00000503659.1:p.Val68Gly
ENST00000678776.1:c.*33T>G	ENSP00000504624.1:n.*33T>G
ENST00000678784.1:c.203T>G	ENSP00000504652.1:p.Val68Gly
ENST00000678820.1:c.203T>G	ENSP00000504138.1:p.Val68Gly
ENST00000678835.1:c.203T>G	ENSP00000504343.1:p.Val68Gly
ENST00000679088.1:c.203T>G	ENSP00000504727.1:p.Val68Gly
ENST00000679098.1:c.203T>G	ENSP00000504303.1:p.Val68Gly
ENST00000366782.5:c.302T>G	ENSP00000355746.1:p.Val101Gly
ENST00000366783.7:c.203T>G	ENSP00000355747.3:p.Val68Gly
ENST00000422240.6:c.203T>G	ENSP00000403737.2:p.Val68Gly
ENST00000460775.5:c.-21-4325T>G	ENSP00000427912.1:n.-21-4325T>G
ENST00000495488.5:c.203T>G	ENSP00000429682.1:p.Val68Gly
ENST00000626989.2:c.302T>G	ENSP00000486498.1:p.Val101Gly
NM_000447.2:c.203T>G	NP_000438.2:p.Val68Gly
NM_012486.2:c.203T>G	NP_036618.2:p.Val68Gly
XM_005273199.2:c.203T>G	XP_005273256.1:p.Val68Gly
XM_011544236.1:c.-76-1772T>G	XP_011542538.1:n.-76-1772T>G
XR_949149.1:n.630T>G
XR_949150.1:n.630T>G
XM_005273199.4:c.203T>G	XP_005273256.1:p.Val68Gly
XM_017001835.1:c.203T>G	XP_016857324.1:p.Val68Gly
XM_017001836.1:c.203T>G	XP_016857325.1:p.Val68Gly
XR_001737316.2:n.608T>G
XR_001737317.2:n.608T>G
XR_001737318.2:n.608T>G
XR_001737319.1:n.951T>G
XR_001737320.1:n.951T>G
XR_001737321.1:n.443T>G
XR_949149.2:n.608T>G
XR_949150.3:n.608T>G
NM_000447.3:c.203T>G MANE Select	NP_000438.2:p.Val68Gly
NM_012486.3:c.203T>G	NP_036618.2:p.Val68Gly