Canonical Allele Identifier: CA345044228

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227081811C>A (hg19) ; chr1:g.226894110C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894110C>A , CM000663.2:g.226894110C>A	GRCh38
NC_000001.10:g.227081811C>A , CM000663.1:g.227081811C>A	GRCh37
NC_000001.9:g.225148434C>A	NCBI36
NG_007381.1:g.28539C>A
NG_012825.2:g.1575C>A
NG_007381.2:g.28927C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1176C>A	ENSP00000355741.2:p.Phe392Leu
ENST00000366782.6:c.1176C>A	ENSP00000355746.2:p.Phe392Leu
ENST00000366783.8:c.1176C>A MANE Select	ENSP00000355747.3:p.Phe392Leu
ENST00000471728.2:n.1814C>A
ENST00000524196.6:c.1176C>A	ENSP00000429036.2:p.Phe392Leu
ENST00000626989.3:c.1176C>A	ENSP00000486498.2:p.Phe392Leu
ENST00000676467.1:c.*1003C>A	ENSP00000504294.1:n.*1003C>A
ENST00000676747.1:c.1173C>A	ENSP00000503244.1:p.Phe391Leu
ENST00000676884.1:c.1176C>A	ENSP00000503200.1:p.Phe392Leu
ENST00000676888.1:c.*517C>A	ENSP00000504483.1:n.*517C>A
ENST00000676907.1:c.*755C>A	ENSP00000504410.1:n.*755C>A
ENST00000676945.1:c.1176C>A	ENSP00000504433.1:p.Phe392Leu
ENST00000677065.1:n.1737C>A
ENST00000677414.1:c.1176C>A	ENSP00000503116.1:p.Phe392Leu
ENST00000677529.1:n.2906C>A
ENST00000677596.1:c.*1398C>A	ENSP00000503618.1:n.*1398C>A
ENST00000677599.1:c.1176C>A	ENSP00000503673.1:p.Phe392Leu
ENST00000677748.1:n.3431C>A
ENST00000677880.1:c.741C>A	ENSP00000503121.1:p.Phe247Leu
ENST00000678021.1:c.*799C>A	ENSP00000504674.1:n.*799C>A
ENST00000678233.1:c.1176C>A	ENSP00000504728.1:p.Phe392Leu
ENST00000678320.1:c.1077C>A	ENSP00000503680.1:p.Phe359Leu
ENST00000678655.1:c.1077C>A	ENSP00000504230.1:p.Phe359Leu
ENST00000678706.1:c.*553C>A	ENSP00000503659.1:n.*553C>A
ENST00000678776.1:c.*1313C>A	ENSP00000504624.1:n.*1313C>A
ENST00000678784.1:c.1072+2266C>A	ENSP00000504652.1:n.1072+2266C>A
ENST00000678820.1:c.1074C>A	ENSP00000504138.1:p.Phe358Leu
ENST00000678835.1:c.*756+2266C>A	ENSP00000504343.1:n.*756+2266C>A
ENST00000679088.1:c.1176C>A	ENSP00000504727.1:p.Phe392Leu
ENST00000679098.1:c.1176C>A	ENSP00000504303.1:p.Phe392Leu
ENST00000366782.5:c.1275C>A	ENSP00000355746.1:p.Phe425Leu
ENST00000366783.7:c.1176C>A	ENSP00000355747.3:p.Phe392Leu
ENST00000422240.6:c.1173C>A	ENSP00000403737.2:p.Phe391Leu
ENST00000471728.1:n.434C>A
ENST00000472139.2:c.744C>A	ENSP00000427806.1:p.Phe248Leu
ENST00000626989.2:c.1275C>A	ENSP00000486498.1:p.Phe425Leu
NM_000447.2:c.1176C>A	NP_000438.2:p.Phe392Leu
NM_012486.2:c.1173C>A	NP_036618.2:p.Phe391Leu
XM_005273199.2:c.1176C>A	XP_005273256.1:p.Phe392Leu
XM_011544236.1:c.744C>A	XP_011542538.1:p.Phe248Leu
XR_949149.1:n.1910C>A
XM_005273199.4:c.1176C>A	XP_005273256.1:p.Phe392Leu
XM_017001835.1:c.1176C>A	XP_016857324.1:p.Phe392Leu
XM_017001836.1:c.1173C>A	XP_016857325.1:p.Phe391Leu
XR_001737316.2:n.1477+2266C>A
XR_001737317.2:n.1477+2266C>A
XR_001737318.2:n.1891C>A
XR_001737319.1:n.2234C>A
XR_001737320.1:n.2231C>A
XR_001737321.1:n.1726C>A
XR_949149.2:n.1888C>A
XR_949150.3:n.2107C>A
NM_000447.3:c.1176C>A MANE Select	NP_000438.2:p.Phe392Leu
NM_012486.3:c.1173C>A	NP_036618.2:p.Phe391Leu