Canonical Allele Identifier: CA377484816
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs2132276621

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957883T>G , CM000672.2:g.87957883T>G GRCh38
NC_000010.10:g.89717640T>G , CM000672.1:g.89717640T>G GRCh37
NC_000010.9:g.89707620T>G NCBI36
NG_007466.2:g.99445T>G , LRG_311:g.99445T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.665T>G ENSP00000514759.2:p.Val222Gly
ENST00000710265.1:c.665T>G ENSP00000518161.1:p.Val222Gly
ENST00000472832.3:c.665T>G ENSP00000483066.2:p.Val222Gly
ENST00000688158.2:n.1400T>G
ENST00000688922.2:c.*495T>G ENSP00000508742.2:n.*495T>G
ENST00000700021.1:c.620T>G ENSP00000514757.1:p.Val207Gly
ENST00000700022.1:c.*4T>G ENSP00000514758.1:n.*4T>G
ENST00000700023.1:n.1823T>G
ENST00000700024.1:n.2057T>G
ENST00000700025.1:n.1434T>G
ENST00000700026.1:n.302T>G
ENST00000700029.1:c.499T>G
ENST00000706954.1:c.665T>G ENSP00000516674.1:p.Val222Gly
ENST00000706955.1:c.*700T>G ENSP00000516675.1:n.*700T>G
ENST00000686459.1:c.*251T>G ENSP00000508909.1:n.*251T>G
ENST00000688158.1:c.*776T>G ENSP00000509254.1:n.*776T>G
ENST00000688308.1:c.665T>G ENSP00000508752.1:p.Val222Gly
ENST00000688922.1:c.586T>G
ENST00000693560.1:c.1184T>G ENSP00000509861.1:p.Val395Gly
ENST00000371953.8:c.665T>G MANE Select ENSP00000361021.3:p.Val222Gly
ENST00000371953.7:c.665T>G ENSP00000361021.3:p.Val222Gly
ENST00000472832.2:c.92T>G ENSP00000483066.1:p.Val31Gly
NM_000314.5:c.665T>G NP_000305.3:p.Val222Gly
NM_000314.6:c.665T>G NP_000305.3:p.Val222Gly
NM_001304717.2:c.1184T>G NP_001291646.2:p.Val395Gly
NM_001304718.1:c.74T>G NP_001291647.1:p.Val25Gly
XM_006717926.2:c.620T>G XP_006717989.1:p.Val207Gly
XM_011539981.1:c.665T>G XP_011538283.1:p.Val222Gly
XM_011539982.1:c.569T>G XP_011538284.1:p.Val190Gly
XR_945791.1:n.1235T>G
NM_000314.7:c.665T>G NP_000305.3:p.Val222Gly
NM_001304717.5:c.1184T>G NP_001291646.4:p.Val395Gly
NM_001304718.2:c.74T>G NP_001291647.1:p.Val25Gly
NM_000314.8:c.665T>G MANE Select NP_000305.3:p.Val222Gly