Canonical Allele Identifier: CA345044018

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227081770G>A (hg19) ; chr1:g.226894069G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894069G>A , CM000663.2:g.226894069G>A	GRCh38
NC_000001.10:g.227081770G>A , CM000663.1:g.227081770G>A	GRCh37
NC_000001.9:g.225148393G>A	NCBI36
NG_007381.1:g.28498G>A
NG_012825.2:g.1534G>A
NG_007381.2:g.28886G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1135G>A	ENSP00000355741.2:p.Ala379Thr
ENST00000366782.6:c.1135G>A	ENSP00000355746.2:p.Ala379Thr
ENST00000366783.8:c.1135G>A MANE Select	ENSP00000355747.3:p.Ala379Thr
ENST00000471728.2:n.1773G>A
ENST00000524196.6:c.1135G>A	ENSP00000429036.2:p.Ala379Thr
ENST00000626989.3:c.1135G>A	ENSP00000486498.2:p.Ala379Thr
ENST00000676467.1:c.*962G>A	ENSP00000504294.1:n.*962G>A
ENST00000676747.1:c.1132G>A	ENSP00000503244.1:p.Ala378Thr
ENST00000676884.1:c.1135G>A	ENSP00000503200.1:p.Ala379Thr
ENST00000676888.1:c.*476G>A	ENSP00000504483.1:n.*476G>A
ENST00000676907.1:c.*714G>A	ENSP00000504410.1:n.*714G>A
ENST00000676945.1:c.1135G>A	ENSP00000504433.1:p.Ala379Thr
ENST00000677065.1:n.1696G>A
ENST00000677414.1:c.1135G>A	ENSP00000503116.1:p.Ala379Thr
ENST00000677529.1:n.2865G>A
ENST00000677596.1:c.*1357G>A	ENSP00000503618.1:n.*1357G>A
ENST00000677599.1:c.1135G>A	ENSP00000503673.1:p.Ala379Thr
ENST00000677748.1:n.3390G>A
ENST00000677880.1:c.700G>A	ENSP00000503121.1:p.Ala234Thr
ENST00000678021.1:c.*758G>A	ENSP00000504674.1:n.*758G>A
ENST00000678233.1:c.1135G>A	ENSP00000504728.1:p.Ala379Thr
ENST00000678320.1:c.1036G>A	ENSP00000503680.1:p.Ala346Thr
ENST00000678655.1:c.1036G>A	ENSP00000504230.1:p.Ala346Thr
ENST00000678706.1:c.*512G>A	ENSP00000503659.1:n.*512G>A
ENST00000678776.1:c.*1272G>A	ENSP00000504624.1:n.*1272G>A
ENST00000678784.1:c.1072+2225G>A	ENSP00000504652.1:n.1072+2225G>A
ENST00000678820.1:c.1033G>A	ENSP00000504138.1:p.Ala345Thr
ENST00000678835.1:c.*756+2225G>A	ENSP00000504343.1:n.*756+2225G>A
ENST00000679088.1:c.1135G>A	ENSP00000504727.1:p.Ala379Thr
ENST00000679098.1:c.1135G>A	ENSP00000504303.1:p.Ala379Thr
ENST00000366782.5:c.1234G>A	ENSP00000355746.1:p.Ala412Thr
ENST00000366783.7:c.1135G>A	ENSP00000355747.3:p.Ala379Thr
ENST00000422240.6:c.1132G>A	ENSP00000403737.2:p.Ala378Thr
ENST00000471728.1:n.393G>A
ENST00000472139.2:c.703G>A	ENSP00000427806.1:p.Ala235Thr
ENST00000626989.2:c.1234G>A	ENSP00000486498.1:p.Ala412Thr
NM_000447.2:c.1135G>A	NP_000438.2:p.Ala379Thr
NM_012486.2:c.1132G>A	NP_036618.2:p.Ala378Thr
XM_005273199.2:c.1135G>A	XP_005273256.1:p.Ala379Thr
XM_011544236.1:c.703G>A	XP_011542538.1:p.Ala235Thr
XR_949149.1:n.1869G>A
XM_005273199.4:c.1135G>A	XP_005273256.1:p.Ala379Thr
XM_017001835.1:c.1135G>A	XP_016857324.1:p.Ala379Thr
XM_017001836.1:c.1132G>A	XP_016857325.1:p.Ala378Thr
XR_001737316.2:n.1477+2225G>A
XR_001737317.2:n.1477+2225G>A
XR_001737318.2:n.1850G>A
XR_001737319.1:n.2193G>A
XR_001737320.1:n.2190G>A
XR_001737321.1:n.1685G>A
XR_949149.2:n.1847G>A
XR_949150.3:n.2066G>A
NM_000447.3:c.1135G>A MANE Select	NP_000438.2:p.Ala379Thr
NM_012486.3:c.1132G>A	NP_036618.2:p.Ala378Thr