Canonical Allele Identifier: CA345044073

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227081785G>C (hg19) ; chr1:g.226894084G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894084G>C , CM000663.2:g.226894084G>C	GRCh38
NC_000001.10:g.227081785G>C , CM000663.1:g.227081785G>C	GRCh37
NC_000001.9:g.225148408G>C	NCBI36
NG_007381.1:g.28513G>C
NG_012825.2:g.1549G>C
NG_007381.2:g.28901G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1150G>C	ENSP00000355741.2:p.Asp384His
ENST00000366782.6:c.1150G>C	ENSP00000355746.2:p.Asp384His
ENST00000366783.8:c.1150G>C MANE Select	ENSP00000355747.3:p.Asp384His
ENST00000471728.2:n.1788G>C
ENST00000524196.6:c.1150G>C	ENSP00000429036.2:p.Asp384His
ENST00000626989.3:c.1150G>C	ENSP00000486498.2:p.Asp384His
ENST00000676467.1:c.*977G>C	ENSP00000504294.1:n.*977G>C
ENST00000676747.1:c.1147G>C	ENSP00000503244.1:p.Asp383His
ENST00000676884.1:c.1150G>C	ENSP00000503200.1:p.Asp384His
ENST00000676888.1:c.*491G>C	ENSP00000504483.1:n.*491G>C
ENST00000676907.1:c.*729G>C	ENSP00000504410.1:n.*729G>C
ENST00000676945.1:c.1150G>C	ENSP00000504433.1:p.Asp384His
ENST00000677065.1:n.1711G>C
ENST00000677414.1:c.1150G>C	ENSP00000503116.1:p.Asp384His
ENST00000677529.1:n.2880G>C
ENST00000677596.1:c.*1372G>C	ENSP00000503618.1:n.*1372G>C
ENST00000677599.1:c.1150G>C	ENSP00000503673.1:p.Asp384His
ENST00000677748.1:n.3405G>C
ENST00000677880.1:c.715G>C	ENSP00000503121.1:p.Asp239His
ENST00000678021.1:c.*773G>C	ENSP00000504674.1:n.*773G>C
ENST00000678233.1:c.1150G>C	ENSP00000504728.1:p.Asp384His
ENST00000678320.1:c.1051G>C	ENSP00000503680.1:p.Asp351His
ENST00000678655.1:c.1051G>C	ENSP00000504230.1:p.Asp351His
ENST00000678706.1:c.*527G>C	ENSP00000503659.1:n.*527G>C
ENST00000678776.1:c.*1287G>C	ENSP00000504624.1:n.*1287G>C
ENST00000678784.1:c.1072+2240G>C	ENSP00000504652.1:n.1072+2240G>C
ENST00000678820.1:c.1048G>C	ENSP00000504138.1:p.Asp350His
ENST00000678835.1:c.*756+2240G>C	ENSP00000504343.1:n.*756+2240G>C
ENST00000679088.1:c.1150G>C	ENSP00000504727.1:p.Asp384His
ENST00000679098.1:c.1150G>C	ENSP00000504303.1:p.Asp384His
ENST00000366782.5:c.1249G>C	ENSP00000355746.1:p.Asp417His
ENST00000366783.7:c.1150G>C	ENSP00000355747.3:p.Asp384His
ENST00000422240.6:c.1147G>C	ENSP00000403737.2:p.Asp383His
ENST00000471728.1:n.408G>C
ENST00000472139.2:c.718G>C	ENSP00000427806.1:p.Asp240His
ENST00000626989.2:c.1249G>C	ENSP00000486498.1:p.Asp417His
NM_000447.2:c.1150G>C	NP_000438.2:p.Asp384His
NM_012486.2:c.1147G>C	NP_036618.2:p.Asp383His
XM_005273199.2:c.1150G>C	XP_005273256.1:p.Asp384His
XM_011544236.1:c.718G>C	XP_011542538.1:p.Asp240His
XR_949149.1:n.1884G>C
XM_005273199.4:c.1150G>C	XP_005273256.1:p.Asp384His
XM_017001835.1:c.1150G>C	XP_016857324.1:p.Asp384His
XM_017001836.1:c.1147G>C	XP_016857325.1:p.Asp383His
XR_001737316.2:n.1477+2240G>C
XR_001737317.2:n.1477+2240G>C
XR_001737318.2:n.1865G>C
XR_001737319.1:n.2208G>C
XR_001737320.1:n.2205G>C
XR_001737321.1:n.1700G>C
XR_949149.2:n.1862G>C
XR_949150.3:n.2081G>C
NM_000447.3:c.1150G>C MANE Select	NP_000438.2:p.Asp384His
NM_012486.3:c.1147G>C	NP_036618.2:p.Asp383His