Canonical Allele Identifier: CA377485408
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs2132281688

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960894G>C , CM000672.2:g.87960894G>C GRCh38
NC_000010.10:g.89720651G>C , CM000672.1:g.89720651G>C GRCh37
NC_000010.9:g.89710631G>C NCBI36
NG_007466.2:g.102456G>C , LRG_311:g.102456G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.895G>C ENSP00000514759.2:p.Asp299His
ENST00000710265.1:c.802G>C ENSP00000518161.1:p.Asp268His
ENST00000472832.3:c.802G>C ENSP00000483066.2:p.Asp268His
ENST00000688158.2:n.1537G>C
ENST00000688922.2:c.*632G>C ENSP00000508742.2:n.*632G>C
ENST00000700021.1:c.757G>C ENSP00000514757.1:p.Asp253His
ENST00000700022.1:c.*141G>C ENSP00000514758.1:n.*141G>C
ENST00000700023.1:n.1960G>C
ENST00000700024.1:n.2194G>C
ENST00000700025.1:n.1571G>C
ENST00000700026.1:n.439G>C
ENST00000700029.1:c.729G>C
ENST00000706954.1:c.802G>C ENSP00000516674.1:p.Asp268His
ENST00000706955.1:c.*837G>C ENSP00000516675.1:n.*837G>C
ENST00000686459.1:c.*388G>C ENSP00000508909.1:n.*388G>C
ENST00000688158.1:c.*913G>C ENSP00000509254.1:n.*913G>C
ENST00000688308.1:c.802G>C ENSP00000508752.1:p.Asp268His
ENST00000688922.1:c.723G>C
ENST00000693560.1:c.1321G>C ENSP00000509861.1:p.Asp441His
ENST00000371953.8:c.802G>C MANE Select ENSP00000361021.3:p.Asp268His
ENST00000371953.7:c.802G>C ENSP00000361021.3:p.Asp268His
ENST00000472832.2:c.229G>C ENSP00000483066.1:p.Asp77His
NM_000314.5:c.802G>C NP_000305.3:p.Asp268His
NM_000314.6:c.802G>C NP_000305.3:p.Asp268His
NM_001304717.2:c.1321G>C NP_001291646.2:p.Asp441His
NM_001304718.1:c.211G>C NP_001291647.1:p.Asp71His
XM_006717926.2:c.757G>C XP_006717989.1:p.Asp253His
XM_011539981.1:c.802G>C XP_011538283.1:p.Asp268His
XM_011539982.1:c.706G>C XP_011538284.1:p.Asp236His
XR_945791.1:n.1372G>C
NM_000314.7:c.802G>C NP_000305.3:p.Asp268His
NM_001304717.5:c.1321G>C NP_001291646.4:p.Asp441His
NM_001304718.2:c.211G>C NP_001291647.1:p.Asp71His
NM_000314.8:c.802G>C MANE Select NP_000305.3:p.Asp268His