Canonical Allele Identifier: CA423519728

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227081739C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894038C>T , CM000663.2:g.226894038C>T	GRCh38
NC_000001.10:g.227081739C>T , CM000663.1:g.227081739C>T	GRCh37
NC_000001.9:g.225148362C>T	NCBI36
NG_007381.1:g.28467C>T
NG_012825.2:g.1503C>T
NG_007381.2:g.28855C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1104C>T	ENSP00000355741.2:p.Ile368=
ENST00000366782.6:c.1104C>T	ENSP00000355746.2:p.Ile368=
ENST00000366783.8:c.1104C>T MANE Select	ENSP00000355747.3:p.Ile368=
ENST00000471728.2:n.1742C>T
ENST00000524196.6:c.1104C>T	ENSP00000429036.2:p.Ile368=
ENST00000626989.3:c.1104C>T	ENSP00000486498.2:p.Ile368=
ENST00000676467.1:c.*931C>T	ENSP00000504294.1:n.*931C>T
ENST00000676747.1:c.1101C>T	ENSP00000503244.1:p.Ile367=
ENST00000676884.1:c.1104C>T	ENSP00000503200.1:p.Ile368=
ENST00000676888.1:c.*445C>T	ENSP00000504483.1:n.*445C>T
ENST00000676907.1:c.*683C>T	ENSP00000504410.1:n.*683C>T
ENST00000676945.1:c.1104C>T	ENSP00000504433.1:p.Ile368=
ENST00000677065.1:n.1665C>T
ENST00000677414.1:c.1104C>T	ENSP00000503116.1:p.Ile368=
ENST00000677529.1:n.2834C>T
ENST00000677596.1:c.*1326C>T	ENSP00000503618.1:n.*1326C>T
ENST00000677599.1:c.1104C>T	ENSP00000503673.1:p.Ile368=
ENST00000677748.1:n.3359C>T
ENST00000677880.1:c.669C>T	ENSP00000503121.1:p.Ile223=
ENST00000678021.1:c.*727C>T	ENSP00000504674.1:n.*727C>T
ENST00000678233.1:c.1104C>T	ENSP00000504728.1:p.Ile368=
ENST00000678320.1:c.1005C>T	ENSP00000503680.1:p.Ile335=
ENST00000678655.1:c.1005C>T	ENSP00000504230.1:p.Ile335=
ENST00000678706.1:c.*481C>T	ENSP00000503659.1:n.*481C>T
ENST00000678776.1:c.*1241C>T	ENSP00000504624.1:n.*1241C>T
ENST00000678784.1:c.1072+2194C>T	ENSP00000504652.1:n.1072+2194C>T
ENST00000678820.1:c.1002C>T	ENSP00000504138.1:p.Ile334=
ENST00000678835.1:c.*756+2194C>T	ENSP00000504343.1:n.*756+2194C>T
ENST00000679088.1:c.1104C>T	ENSP00000504727.1:p.Ile368=
ENST00000679098.1:c.1104C>T	ENSP00000504303.1:p.Ile368=
ENST00000366782.5:c.1203C>T	ENSP00000355746.1:p.Ile401=
ENST00000366783.7:c.1104C>T	ENSP00000355747.3:p.Ile368=
ENST00000422240.6:c.1101C>T	ENSP00000403737.2:p.Ile367=
ENST00000471728.1:n.362C>T
ENST00000472139.2:c.672C>T	ENSP00000427806.1:p.Ile224=
ENST00000626989.2:c.1203C>T	ENSP00000486498.1:p.Ile401=
NM_000447.2:c.1104C>T	NP_000438.2:p.Ile368=
NM_012486.2:c.1101C>T	NP_036618.2:p.Ile367=
XM_005273199.2:c.1104C>T	XP_005273256.1:p.Ile368=
XM_011544236.1:c.672C>T	XP_011542538.1:p.Ile224=
XR_949149.1:n.1838C>T
XM_005273199.4:c.1104C>T	XP_005273256.1:p.Ile368=
XM_017001835.1:c.1104C>T	XP_016857324.1:p.Ile368=
XM_017001836.1:c.1101C>T	XP_016857325.1:p.Ile367=
XR_001737316.2:n.1477+2194C>T
XR_001737317.2:n.1477+2194C>T
XR_001737318.2:n.1819C>T
XR_001737319.1:n.2162C>T
XR_001737320.1:n.2159C>T
XR_001737321.1:n.1654C>T
XR_949149.2:n.1816C>T
XR_949150.3:n.2035C>T
NM_000447.3:c.1104C>T MANE Select	NP_000438.2:p.Ile368=
NM_012486.3:c.1101C>T	NP_036618.2:p.Ile367=