Canonical Allele Identifier: CA377784973
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 427584
dbSNP Id: rs1085308043

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87925511A>G , CM000672.2:g.87925511A>G GRCh38
NC_000010.10:g.89685268A>G , CM000672.1:g.89685268A>G GRCh37
NC_000010.9:g.89675248A>G NCBI36
NG_007466.2:g.67073A>G , LRG_311:g.67073A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.165-2A>G ENSP00000514759.2:n.165-2A>G
ENST00000710265.1:c.165-2A>G ENSP00000518161.1:n.165-2A>G
ENST00000472832.3:c.165-2A>G ENSP00000483066.2:n.165-2A>G
ENST00000688158.2:n.900-2A>G
ENST00000688922.2:c.165-2A>G ENSP00000508742.2:n.165-2A>G
ENST00000700021.1:c.165-5535A>G ENSP00000514757.1:n.165-5535A>G
ENST00000700022.1:c.165-2A>G ENSP00000514758.1:n.165-2A>G
ENST00000706954.1:c.165-2A>G ENSP00000516674.1:n.165-2A>G
ENST00000706955.1:c.*200-2A>G ENSP00000516675.1:n.*200-2A>G
ENST00000686459.1:c.165-2A>G ENSP00000508909.1:n.165-2A>G
ENST00000688158.1:c.*276-2A>G ENSP00000509254.1:n.*276-2A>G
ENST00000688308.1:c.165-2A>G ENSP00000508752.1:n.165-2A>G
ENST00000688922.1:c.34-2A>G
ENST00000693560.1:c.684-2A>G ENSP00000509861.1:n.684-2A>G
ENST00000371953.8:c.165-2A>G MANE Select ENSP00000361021.3:n.165-2A>G
ENST00000371953.7:c.165-2A>G ENSP00000361021.3:n.165-2A>G
ENST00000610634.1:c.63-2A>G ENSP00000477517.1:n.63-2A>G
NM_000314.5:c.165-2A>G NP_000305.3:n.165-2A>G
NM_000314.6:c.165-2A>G NP_000305.3:n.165-2A>G
NM_001304717.2:c.684-2A>G NP_001291646.2:n.684-2A>G
NM_001304718.1:c.-541-5535A>G NP_001291647.1:n.-541-5535A>G
XM_006717926.2:c.165-5535A>G XP_006717989.1:n.165-5535A>G
XM_011539981.1:c.165-2A>G XP_011538283.1:n.165-2A>G
XM_011539982.1:c.69-2A>G XP_011538284.1:n.69-2A>G
XR_945789.1:n.877-2A>G
XR_945790.1:n.877-2A>G
XR_945791.1:n.877-2A>G
NM_000314.7:c.165-2A>G NP_000305.3:n.165-2A>G
NM_001304717.5:c.684-2A>G NP_001291646.4:n.684-2A>G
NM_001304718.2:c.-541-5535A>G NP_001291647.1:n.-541-5535A>G
NM_000314.8:c.165-2A>G MANE Select NP_000305.3:n.165-2A>G