Canonical Allele Identifier: CA345043912

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227081722G>A (hg19) ; chr1:g.226894021G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894021G>A , CM000663.2:g.226894021G>A	GRCh38
NC_000001.10:g.227081722G>A , CM000663.1:g.227081722G>A	GRCh37
NC_000001.9:g.225148345G>A	NCBI36
NG_007381.1:g.28450G>A
NG_012825.2:g.1486G>A
NG_007381.2:g.28838G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1087G>A	ENSP00000355741.2:p.Gly363Ser
ENST00000366782.6:c.1087G>A	ENSP00000355746.2:p.Gly363Ser
ENST00000366783.8:c.1087G>A MANE Select	ENSP00000355747.3:p.Gly363Ser
ENST00000471728.2:n.1725G>A
ENST00000524196.6:c.1087G>A	ENSP00000429036.2:p.Gly363Ser
ENST00000626989.3:c.1087G>A	ENSP00000486498.2:p.Gly363Ser
ENST00000676467.1:c.*914G>A	ENSP00000504294.1:n.*914G>A
ENST00000676747.1:c.1084G>A	ENSP00000503244.1:p.Gly362Ser
ENST00000676884.1:c.1087G>A	ENSP00000503200.1:p.Gly363Ser
ENST00000676888.1:c.*428G>A	ENSP00000504483.1:n.*428G>A
ENST00000676907.1:c.*666G>A	ENSP00000504410.1:n.*666G>A
ENST00000676945.1:c.1087G>A	ENSP00000504433.1:p.Gly363Ser
ENST00000677065.1:n.1648G>A
ENST00000677414.1:c.1087G>A	ENSP00000503116.1:p.Gly363Ser
ENST00000677529.1:n.2817G>A
ENST00000677596.1:c.*1309G>A	ENSP00000503618.1:n.*1309G>A
ENST00000677599.1:c.1087G>A	ENSP00000503673.1:p.Gly363Ser
ENST00000677748.1:n.3342G>A
ENST00000677880.1:c.652G>A	ENSP00000503121.1:p.Gly218Ser
ENST00000678021.1:c.*710G>A	ENSP00000504674.1:n.*710G>A
ENST00000678233.1:c.1087G>A	ENSP00000504728.1:p.Gly363Ser
ENST00000678320.1:c.988G>A	ENSP00000503680.1:p.Gly330Ser
ENST00000678655.1:c.988G>A	ENSP00000504230.1:p.Gly330Ser
ENST00000678706.1:c.*464G>A	ENSP00000503659.1:n.*464G>A
ENST00000678776.1:c.*1224G>A	ENSP00000504624.1:n.*1224G>A
ENST00000678784.1:c.1072+2177G>A	ENSP00000504652.1:n.1072+2177G>A
ENST00000678820.1:c.985G>A	ENSP00000504138.1:p.Gly329Ser
ENST00000678835.1:c.*756+2177G>A	ENSP00000504343.1:n.*756+2177G>A
ENST00000679088.1:c.1087G>A	ENSP00000504727.1:p.Gly363Ser
ENST00000679098.1:c.1087G>A	ENSP00000504303.1:p.Gly363Ser
ENST00000366782.5:c.1186G>A	ENSP00000355746.1:p.Gly396Ser
ENST00000366783.7:c.1087G>A	ENSP00000355747.3:p.Gly363Ser
ENST00000422240.6:c.1084G>A	ENSP00000403737.2:p.Gly362Ser
ENST00000471728.1:n.345G>A
ENST00000472139.2:c.655G>A	ENSP00000427806.1:p.Gly219Ser
ENST00000626989.2:c.1186G>A	ENSP00000486498.1:p.Gly396Ser
NM_000447.2:c.1087G>A	NP_000438.2:p.Gly363Ser
NM_012486.2:c.1084G>A	NP_036618.2:p.Gly362Ser
XM_005273199.2:c.1087G>A	XP_005273256.1:p.Gly363Ser
XM_011544236.1:c.655G>A	XP_011542538.1:p.Gly219Ser
XR_949149.1:n.1821G>A
XM_005273199.4:c.1087G>A	XP_005273256.1:p.Gly363Ser
XM_017001835.1:c.1087G>A	XP_016857324.1:p.Gly363Ser
XM_017001836.1:c.1084G>A	XP_016857325.1:p.Gly362Ser
XR_001737316.2:n.1477+2177G>A
XR_001737317.2:n.1477+2177G>A
XR_001737318.2:n.1802G>A
XR_001737319.1:n.2145G>A
XR_001737320.1:n.2142G>A
XR_001737321.1:n.1637G>A
XR_949149.2:n.1799G>A
XR_949150.3:n.2018G>A
NM_000447.3:c.1087G>A MANE Select	NP_000438.2:p.Gly363Ser
NM_012486.3:c.1084G>A	NP_036618.2:p.Gly362Ser