Canonical Allele Identifier: CA1146877054

Gene: PSEN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226870668G= , CM000663.2:g.226870668G=	GRCh38
NC_000001.10:g.227058369G= , CM000663.1:g.227058369G=	GRCh37
NC_000001.9:g.225124992G=	NCBI36
NG_007381.1:g.5097G=
NG_007381.2:g.5485G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.-350+163G=	ENSP00000355741.2:n.-350+163G=
ENST00000366783.8:c.-350+19G= MANE Select	ENSP00000355747.3:n.-350+19G=
ENST00000524196.6:c.-350+163G=	ENSP00000429036.2:n.-350+163G=
ENST00000676747.1:c.-207+19G=	ENSP00000503244.1:n.-207+19G=
ENST00000676840.1:c.-350+19G=	ENSP00000504318.1:n.-350+19G=
ENST00000676884.1:c.-350+163G=	ENSP00000503200.1:n.-350+163G=
ENST00000676888.1:c.-350+163G=	ENSP00000504483.1:n.-350+163G=
ENST00000676907.1:c.-350+19G=	ENSP00000504410.1:n.-350+19G=
ENST00000676945.1:c.-350+19G=	ENSP00000504433.1:n.-350+19G=
ENST00000677414.1:c.-207+19G=	ENSP00000503116.1:n.-207+19G=
ENST00000677529.1:n.89+19G=
ENST00000677596.1:c.-350+19G=	ENSP00000503618.1:n.-350+19G=
ENST00000677599.1:c.-350+19G=	ENSP00000503673.1:n.-350+19G=
ENST00000677748.1:n.89+19G=
ENST00000677880.1:c.-483+19G=	ENSP00000503121.1:n.-483+19G=
ENST00000678021.1:c.-350+19G=	ENSP00000504674.1:n.-350+19G=
ENST00000678233.1:c.-350+19G=	ENSP00000504728.1:n.-350+19G=
ENST00000678320.1:c.-350+19G=	ENSP00000503680.1:n.-350+19G=
ENST00000678655.1:c.-350+19G=	ENSP00000504230.1:n.-350+19G=
ENST00000678706.1:c.-350+19G=	ENSP00000503659.1:n.-350+19G=
ENST00000678784.1:c.-350+19G=	ENSP00000504652.1:n.-350+19G=
ENST00000678820.1:c.-350+19G=	ENSP00000504138.1:n.-350+19G=
ENST00000678835.1:c.-350+19G=	ENSP00000504343.1:n.-350+19G=
ENST00000679088.1:c.-1798+19G=	ENSP00000504727.1:n.-1798+19G=
ENST00000679098.1:c.-350+19G=	ENSP00000504303.1:n.-350+19G=
ENST00000366783.7:c.-350+19G=	ENSP00000355747.3:n.-350+19G=
ENST00000422240.6:c.-350+19G=	ENSP00000403737.2:n.-350+19G=
ENST00000495488.5:c.-207+19G=	ENSP00000429682.1:n.-207+19G=
ENST00000524196.5:c.-350+163G=	ENSP00000429036.1:n.-350+163G=
NM_000447.2:c.-350+19G=	NP_000438.2:n.-350+19G=
NM_012486.2:c.-350+19G=	NP_036618.2:n.-350+19G=
XM_005273199.2:c.-207+19G=	XP_005273256.1:n.-207+19G=
XR_949149.1:n.78+19G=
XR_949150.1:n.78+19G=
XM_005273199.4:c.-207+19G=	XP_005273256.1:n.-207+19G=
XM_017001836.1:c.-207+19G=	XP_016857325.1:n.-207+19G=
XR_001737316.2:n.56+19G=
XR_001737317.2:n.56+19G=
XR_001737318.2:n.56+19G=
XR_001737321.1:n.34+19G=
XR_949149.2:n.56+19G=
XR_949150.3:n.56+19G=
NM_000447.3:c.-350+19G= MANE Select	NP_000438.2:n.-350+19G=
NM_012486.3:c.-350+19G=	NP_036618.2:n.-350+19G=