Canonical Allele Identifier: CA059119

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2059435
• ClinVar RCV Id: RCV002933726
• dbSNP Id: rs764488459
• ExAC: 10:89725088 A / G
• gnomAD v2: 10-89725088-A-G
• gnomAD v4: 10-87965331-A-G
• MyVariant Identifiers: chr10:g.89725088A>G (hg19) ; chr10:g.87965331A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965331A>G , CM000672.2:g.87965331A>G	GRCh38
NC_000010.10:g.89725088A>G , CM000672.1:g.89725088A>G	GRCh37
NC_000010.9:g.89715068A>G	NCBI36
NG_007466.2:g.106893A>G , LRG_311:g.106893A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1164A>G	ENSP00000514759.2:p.Pro388=
ENST00000710265.1:c.*100A>G	ENSP00000518161.1:n.*100A>G
ENST00000688158.2:n.1806A>G
ENST00000688922.2:c.*901A>G	ENSP00000508742.2:n.*901A>G
ENST00000700021.1:c.1026A>G	ENSP00000514757.1:p.Pro342=
ENST00000700022.1:c.*410A>G	ENSP00000514758.1:n.*410A>G
ENST00000700023.1:n.2229A>G
ENST00000700024.1:n.2463A>G
ENST00000706954.1:c.1071A>G	ENSP00000516674.1:p.Pro357=
ENST00000706955.1:c.*1106A>G	ENSP00000516675.1:n.*1106A>G
ENST00000686459.1:c.*657A>G	ENSP00000508909.1:n.*657A>G
ENST00000688158.1:c.*1182A>G	ENSP00000509254.1:n.*1182A>G
ENST00000688308.1:c.1071A>G	ENSP00000508752.1:p.Pro357=
ENST00000688922.1:c.992A>G
ENST00000693560.1:c.1590A>G	ENSP00000509861.1:p.Pro530=
ENST00000371953.8:c.1071A>G MANE Select	ENSP00000361021.3:p.Pro357=
ENST00000371953.7:c.1071A>G	ENSP00000361021.3:p.Pro357=
NM_000314.5:c.1071A>G	NP_000305.3:p.Pro357=
NM_000314.6:c.1071A>G	NP_000305.3:p.Pro357=
NM_001304717.2:c.1590A>G	NP_001291646.2:p.Pro530=
NM_001304718.1:c.480A>G	NP_001291647.1:p.Pro160=
XM_006717926.2:c.1026A>G	XP_006717989.1:p.Pro342=
XM_011539982.1:c.975A>G	XP_011538284.1:p.Pro325=
XR_945791.1:n.1641A>G
NM_000314.7:c.1071A>G	NP_000305.3:p.Pro357=
NM_001304717.5:c.1590A>G	NP_001291646.4:p.Pro530=
NM_001304718.2:c.480A>G	NP_001291647.1:p.Pro160=
NM_000314.8:c.1071A>G MANE Select	NP_000305.3:p.Pro357=