Canonical Allele Identifier: CA2650783824

Gene: PSEN2

Linked Data

• gnomAD v4: 1-226870622-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226870622A>C , CM000663.2:g.226870622A>C	GRCh38
NC_000001.10:g.227058323A>C , CM000663.1:g.227058323A>C	GRCh37
NC_000001.9:g.225124946A>C	NCBI36
NG_007381.1:g.5051A>C
NG_007381.2:g.5439A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.-350+117A>C	ENSP00000355741.2:n.-350+117A>C
ENST00000366783.8:c.-377A>C MANE Select	ENSP00000355747.3:n.-377A>C
ENST00000524196.6:c.-350+117A>C	ENSP00000429036.2:n.-350+117A>C
ENST00000676747.1:c.-234A>C	ENSP00000503244.1:n.-234A>C
ENST00000676840.1:c.-377A>C	ENSP00000504318.1:n.-377A>C
ENST00000676884.1:c.-350+117A>C	ENSP00000503200.1:n.-350+117A>C
ENST00000676888.1:c.-350+117A>C	ENSP00000504483.1:n.-350+117A>C
ENST00000676907.1:c.-377A>C	ENSP00000504410.1:n.-377A>C
ENST00000676945.1:c.-377A>C	ENSP00000504433.1:n.-377A>C
ENST00000677414.1:c.-234A>C	ENSP00000503116.1:n.-234A>C
ENST00000677529.1:n.62A>C
ENST00000677599.1:c.-377A>C	ENSP00000503673.1:n.-377A>C
ENST00000677748.1:n.62A>C
ENST00000677880.1:c.-510A>C	ENSP00000503121.1:n.-510A>C
ENST00000678021.1:c.-377A>C	ENSP00000504674.1:n.-377A>C
ENST00000678233.1:c.-377A>C	ENSP00000504728.1:n.-377A>C
ENST00000678320.1:c.-377A>C	ENSP00000503680.1:n.-377A>C
ENST00000678655.1:c.-377A>C	ENSP00000504230.1:n.-377A>C
ENST00000678706.1:c.-377A>C	ENSP00000503659.1:n.-377A>C
ENST00000678784.1:c.-377A>C	ENSP00000504652.1:n.-377A>C
ENST00000678820.1:c.-377A>C	ENSP00000504138.1:n.-377A>C
ENST00000678835.1:c.-377A>C	ENSP00000504343.1:n.-377A>C
ENST00000679088.1:c.-1825A>C	ENSP00000504727.1:n.-1825A>C
ENST00000679098.1:c.-377A>C	ENSP00000504303.1:n.-377A>C
ENST00000366783.7:c.-377A>C	ENSP00000355747.3:n.-377A>C
ENST00000422240.6:c.-377A>C	ENSP00000403737.2:n.-377A>C
ENST00000495488.5:c.-234A>C	ENSP00000429682.1:n.-234A>C
ENST00000524196.5:c.-350+117A>C	ENSP00000429036.1:n.-350+117A>C
NM_000447.2:c.-377A>C	NP_000438.2:n.-377A>C
NM_012486.2:c.-377A>C	NP_036618.2:n.-377A>C
XM_005273199.2:c.-234A>C	XP_005273256.1:n.-234A>C
XR_949149.1:n.51A>C
XR_949150.1:n.51A>C
XM_005273199.4:c.-234A>C	XP_005273256.1:n.-234A>C
XM_017001836.1:c.-234A>C	XP_016857325.1:n.-234A>C
XR_001737316.2:n.29A>C
XR_001737317.2:n.29A>C
XR_001737318.2:n.29A>C
XR_001737321.1:n.7A>C
XR_949149.2:n.29A>C
XR_949150.3:n.29A>C
NM_000447.3:c.-377A>C MANE Select	NP_000438.2:n.-377A>C
NM_012486.3:c.-377A>C	NP_036618.2:n.-377A>C