Canonical Allele Identifier: CA377484214
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 468692
dbSNP Id: rs587781784

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87952116A>C , CM000672.2:g.87952116A>C GRCh38
NC_000010.10:g.89711873A>C , CM000672.1:g.89711873A>C GRCh37
NC_000010.9:g.89701853A>C NCBI36
NG_007466.2:g.93678A>C , LRG_311:g.93678A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.493-2A>C ENSP00000514759.2:n.493-2A>C
ENST00000710265.1:c.493-2A>C ENSP00000518161.1:n.493-2A>C
ENST00000472832.3:c.493-2A>C ENSP00000483066.2:n.493-2A>C
ENST00000688158.2:n.1228-2A>C
ENST00000688922.2:c.*323-2A>C ENSP00000508742.2:n.*323-2A>C
ENST00000700021.1:c.448-2A>C ENSP00000514757.1:n.448-2A>C
ENST00000700022.1:c.493-5737A>C ENSP00000514758.1:n.493-5737A>C
ENST00000700023.1:n.1651-2A>C
ENST00000700024.1:n.1883A>C
ENST00000700025.1:n.1260A>C
ENST00000700029.1:c.327-2A>C
ENST00000706954.1:c.493-2A>C ENSP00000516674.1:n.493-2A>C
ENST00000706955.1:c.*528-2A>C ENSP00000516675.1:n.*528-2A>C
ENST00000686459.1:c.*79-2A>C ENSP00000508909.1:n.*79-2A>C
ENST00000688158.1:c.*604-2A>C ENSP00000509254.1:n.*604-2A>C
ENST00000688308.1:c.493-2A>C ENSP00000508752.1:n.493-2A>C
ENST00000688922.1:c.414-2A>C
ENST00000693560.1:c.1012-2A>C ENSP00000509861.1:n.1012-2A>C
ENST00000371953.8:c.493-2A>C MANE Select ENSP00000361021.3:n.493-2A>C
ENST00000371953.7:c.493-2A>C ENSP00000361021.3:n.493-2A>C
NM_000314.5:c.493-2A>C NP_000305.3:n.493-2A>C
NM_000314.6:c.493-2A>C NP_000305.3:n.493-2A>C
NM_001304717.2:c.1012-2A>C NP_001291646.2:n.1012-2A>C
NM_001304718.1:c.-99-2A>C NP_001291647.1:n.-99-2A>C
XM_006717926.2:c.448-2A>C XP_006717989.1:n.448-2A>C
XM_011539981.1:c.493-2A>C XP_011538283.1:n.493-2A>C
XM_011539982.1:c.397-2A>C XP_011538284.1:n.397-2A>C
XR_945789.1:n.1364-2A>C
XR_945790.1:n.1481-2A>C
XR_945791.1:n.1205-5737A>C
NM_000314.7:c.493-2A>C NP_000305.3:n.493-2A>C
NM_001304717.5:c.1012-2A>C NP_001291646.4:n.1012-2A>C
NM_001304718.2:c.-99-2A>C NP_001291647.1:n.-99-2A>C
NM_000314.8:c.493-2A>C MANE Select NP_000305.3:n.493-2A>C