Canonical Allele Identifier: CA377484982
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 1378842
ClinVar RCV Id: RCV001914703 RCV002388751
dbSNP Id: rs2132277398
MyVariant Identifiers: chr10:g.89717720G>A (hg19) chr10:g.87957963G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957963G>A , CM000672.2:g.87957963G>A GRCh38
NC_000010.10:g.89717720G>A , CM000672.1:g.89717720G>A GRCh37
NC_000010.9:g.89707700G>A NCBI36
NG_007466.2:g.99525G>A , LRG_311:g.99525G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.745G>A ENSP00000514759.2:p.Val249Met
ENST00000710265.1:c.745G>A ENSP00000518161.1:p.Val249Met
ENST00000472832.3:c.745G>A ENSP00000483066.2:p.Val249Met
ENST00000688158.2:n.1480G>A
ENST00000688922.2:c.*575G>A ENSP00000508742.2:n.*575G>A
ENST00000700021.1:c.700G>A ENSP00000514757.1:p.Val234Met
ENST00000700022.1:c.*84G>A ENSP00000514758.1:n.*84G>A
ENST00000700023.1:n.1903G>A
ENST00000700024.1:n.2137G>A
ENST00000700025.1:n.1514G>A
ENST00000700026.1:n.382G>A
ENST00000700029.1:c.579G>A
ENST00000706954.1:c.745G>A ENSP00000516674.1:p.Val249Met
ENST00000706955.1:c.*780G>A ENSP00000516675.1:n.*780G>A
ENST00000686459.1:c.*331G>A ENSP00000508909.1:n.*331G>A
ENST00000688158.1:c.*856G>A ENSP00000509254.1:n.*856G>A
ENST00000688308.1:c.745G>A ENSP00000508752.1:p.Val249Met
ENST00000688922.1:c.666G>A
ENST00000693560.1:c.1264G>A ENSP00000509861.1:p.Val422Met
ENST00000371953.8:c.745G>A MANE Select ENSP00000361021.3:p.Val249Met
ENST00000371953.7:c.745G>A ENSP00000361021.3:p.Val249Met
ENST00000472832.2:c.172G>A ENSP00000483066.1:p.Val58Met
NM_000314.5:c.745G>A NP_000305.3:p.Val249Met
NM_000314.6:c.745G>A NP_000305.3:p.Val249Met
NM_001304717.2:c.1264G>A NP_001291646.2:p.Val422Met
NM_001304718.1:c.154G>A NP_001291647.1:p.Val52Met
XM_006717926.2:c.700G>A XP_006717989.1:p.Val234Met
XM_011539981.1:c.745G>A XP_011538283.1:p.Val249Met
XM_011539982.1:c.649G>A XP_011538284.1:p.Val217Met
XR_945791.1:n.1315G>A
NM_000314.7:c.745G>A NP_000305.3:p.Val249Met
NM_001304717.5:c.1264G>A NP_001291646.4:p.Val422Met
NM_001304718.2:c.154G>A NP_001291647.1:p.Val52Met
NM_000314.8:c.745G>A MANE Select NP_000305.3:p.Val249Met
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