Canonical Allele Identifier: CA345044248

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227081815G>C (hg19) ; chr1:g.226894114G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894114G>C , CM000663.2:g.226894114G>C	GRCh38
NC_000001.10:g.227081815G>C , CM000663.1:g.227081815G>C	GRCh37
NC_000001.9:g.225148438G>C	NCBI36
NG_007381.1:g.28543G>C
NG_012825.2:g.1579G>C
NG_007381.2:g.28931G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1180G>C	ENSP00000355741.2:p.Ala394Pro
ENST00000366782.6:c.1180G>C	ENSP00000355746.2:p.Ala394Pro
ENST00000366783.8:c.1180G>C MANE Select	ENSP00000355747.3:p.Ala394Pro
ENST00000471728.2:n.1818G>C
ENST00000524196.6:c.1180G>C	ENSP00000429036.2:p.Ala394Pro
ENST00000626989.3:c.1180G>C	ENSP00000486498.2:p.Ala394Pro
ENST00000676467.1:c.*1007G>C	ENSP00000504294.1:n.*1007G>C
ENST00000676747.1:c.1177G>C	ENSP00000503244.1:p.Ala393Pro
ENST00000676884.1:c.1180G>C	ENSP00000503200.1:p.Ala394Pro
ENST00000676888.1:c.*521G>C	ENSP00000504483.1:n.*521G>C
ENST00000676907.1:c.*759G>C	ENSP00000504410.1:n.*759G>C
ENST00000676945.1:c.1180G>C	ENSP00000504433.1:p.Ala394Pro
ENST00000677065.1:n.1741G>C
ENST00000677414.1:c.1180G>C	ENSP00000503116.1:p.Ala394Pro
ENST00000677529.1:n.2910G>C
ENST00000677596.1:c.*1402G>C	ENSP00000503618.1:n.*1402G>C
ENST00000677599.1:c.1180G>C	ENSP00000503673.1:p.Ala394Pro
ENST00000677748.1:n.3435G>C
ENST00000677880.1:c.745G>C	ENSP00000503121.1:p.Ala249Pro
ENST00000678021.1:c.*803G>C	ENSP00000504674.1:n.*803G>C
ENST00000678233.1:c.1180G>C	ENSP00000504728.1:p.Ala394Pro
ENST00000678320.1:c.1081G>C	ENSP00000503680.1:p.Ala361Pro
ENST00000678655.1:c.1081G>C	ENSP00000504230.1:p.Ala361Pro
ENST00000678706.1:c.*557G>C	ENSP00000503659.1:n.*557G>C
ENST00000678776.1:c.*1317G>C	ENSP00000504624.1:n.*1317G>C
ENST00000678784.1:c.1072+2270G>C	ENSP00000504652.1:n.1072+2270G>C
ENST00000678820.1:c.1078G>C	ENSP00000504138.1:p.Ala360Pro
ENST00000678835.1:c.*756+2270G>C	ENSP00000504343.1:n.*756+2270G>C
ENST00000679088.1:c.1180G>C	ENSP00000504727.1:p.Ala394Pro
ENST00000679098.1:c.1180G>C	ENSP00000504303.1:p.Ala394Pro
ENST00000366782.5:c.1279G>C	ENSP00000355746.1:p.Ala427Pro
ENST00000366783.7:c.1180G>C	ENSP00000355747.3:p.Ala394Pro
ENST00000422240.6:c.1177G>C	ENSP00000403737.2:p.Ala393Pro
ENST00000471728.1:n.438G>C
ENST00000472139.2:c.748G>C	ENSP00000427806.1:p.Ala250Pro
ENST00000626989.2:c.1279G>C	ENSP00000486498.1:p.Ala427Pro
NM_000447.2:c.1180G>C	NP_000438.2:p.Ala394Pro
NM_012486.2:c.1177G>C	NP_036618.2:p.Ala393Pro
XM_005273199.2:c.1180G>C	XP_005273256.1:p.Ala394Pro
XM_011544236.1:c.748G>C	XP_011542538.1:p.Ala250Pro
XR_949149.1:n.1914G>C
XM_005273199.4:c.1180G>C	XP_005273256.1:p.Ala394Pro
XM_017001835.1:c.1180G>C	XP_016857324.1:p.Ala394Pro
XM_017001836.1:c.1177G>C	XP_016857325.1:p.Ala393Pro
XR_001737316.2:n.1477+2270G>C
XR_001737317.2:n.1477+2270G>C
XR_001737318.2:n.1895G>C
XR_001737319.1:n.2238G>C
XR_001737320.1:n.2235G>C
XR_001737321.1:n.1730G>C
XR_949149.2:n.1892G>C
XR_949150.3:n.2111G>C
NM_000447.3:c.1180G>C MANE Select	NP_000438.2:p.Ala394Pro
NM_012486.3:c.1177G>C	NP_036618.2:p.Ala393Pro