Canonical Allele Identifier: CA345043940

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227081734T>C (hg19) ; chr1:g.226894033T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894033T>C , CM000663.2:g.226894033T>C	GRCh38
NC_000001.10:g.227081734T>C , CM000663.1:g.227081734T>C	GRCh37
NC_000001.9:g.225148357T>C	NCBI36
NG_007381.1:g.28462T>C
NG_012825.2:g.1498T>C
NG_007381.2:g.28850T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1099T>C	ENSP00000355741.2:p.Phe367Leu
ENST00000366782.6:c.1099T>C	ENSP00000355746.2:p.Phe367Leu
ENST00000366783.8:c.1099T>C MANE Select	ENSP00000355747.3:p.Phe367Leu
ENST00000471728.2:n.1737T>C
ENST00000524196.6:c.1099T>C	ENSP00000429036.2:p.Phe367Leu
ENST00000626989.3:c.1099T>C	ENSP00000486498.2:p.Phe367Leu
ENST00000676467.1:c.*926T>C	ENSP00000504294.1:n.*926T>C
ENST00000676747.1:c.1096T>C	ENSP00000503244.1:p.Phe366Leu
ENST00000676884.1:c.1099T>C	ENSP00000503200.1:p.Phe367Leu
ENST00000676888.1:c.*440T>C	ENSP00000504483.1:n.*440T>C
ENST00000676907.1:c.*678T>C	ENSP00000504410.1:n.*678T>C
ENST00000676945.1:c.1099T>C	ENSP00000504433.1:p.Phe367Leu
ENST00000677065.1:n.1660T>C
ENST00000677414.1:c.1099T>C	ENSP00000503116.1:p.Phe367Leu
ENST00000677529.1:n.2829T>C
ENST00000677596.1:c.*1321T>C	ENSP00000503618.1:n.*1321T>C
ENST00000677599.1:c.1099T>C	ENSP00000503673.1:p.Phe367Leu
ENST00000677748.1:n.3354T>C
ENST00000677880.1:c.664T>C	ENSP00000503121.1:p.Phe222Leu
ENST00000678021.1:c.*722T>C	ENSP00000504674.1:n.*722T>C
ENST00000678233.1:c.1099T>C	ENSP00000504728.1:p.Phe367Leu
ENST00000678320.1:c.1000T>C	ENSP00000503680.1:p.Phe334Leu
ENST00000678655.1:c.1000T>C	ENSP00000504230.1:p.Phe334Leu
ENST00000678706.1:c.*476T>C	ENSP00000503659.1:n.*476T>C
ENST00000678776.1:c.*1236T>C	ENSP00000504624.1:n.*1236T>C
ENST00000678784.1:c.1072+2189T>C	ENSP00000504652.1:n.1072+2189T>C
ENST00000678820.1:c.997T>C	ENSP00000504138.1:p.Phe333Leu
ENST00000678835.1:c.*756+2189T>C	ENSP00000504343.1:n.*756+2189T>C
ENST00000679088.1:c.1099T>C	ENSP00000504727.1:p.Phe367Leu
ENST00000679098.1:c.1099T>C	ENSP00000504303.1:p.Phe367Leu
ENST00000366782.5:c.1198T>C	ENSP00000355746.1:p.Phe400Leu
ENST00000366783.7:c.1099T>C	ENSP00000355747.3:p.Phe367Leu
ENST00000422240.6:c.1096T>C	ENSP00000403737.2:p.Phe366Leu
ENST00000471728.1:n.357T>C
ENST00000472139.2:c.667T>C	ENSP00000427806.1:p.Phe223Leu
ENST00000626989.2:c.1198T>C	ENSP00000486498.1:p.Phe400Leu
NM_000447.2:c.1099T>C	NP_000438.2:p.Phe367Leu
NM_012486.2:c.1096T>C	NP_036618.2:p.Phe366Leu
XM_005273199.2:c.1099T>C	XP_005273256.1:p.Phe367Leu
XM_011544236.1:c.667T>C	XP_011542538.1:p.Phe223Leu
XR_949149.1:n.1833T>C
XM_005273199.4:c.1099T>C	XP_005273256.1:p.Phe367Leu
XM_017001835.1:c.1099T>C	XP_016857324.1:p.Phe367Leu
XM_017001836.1:c.1096T>C	XP_016857325.1:p.Phe366Leu
XR_001737316.2:n.1477+2189T>C
XR_001737317.2:n.1477+2189T>C
XR_001737318.2:n.1814T>C
XR_001737319.1:n.2157T>C
XR_001737320.1:n.2154T>C
XR_001737321.1:n.1649T>C
XR_949149.2:n.1811T>C
XR_949150.3:n.2030T>C
NM_000447.3:c.1099T>C MANE Select	NP_000438.2:p.Phe367Leu
NM_012486.3:c.1096T>C	NP_036618.2:p.Phe366Leu