Canonical Allele Identifier: CA000475

Gene: PTEN

Linked Data

• ClinVar Variation Id: 7821
• ClinVar RCV Id: RCV000008267 ; RCV000790897 ; RCV002510769
• dbSNP Id: rs1554898244
• MyVariant Identifiers: chr10:g.89693010T>G (hg19) ; chr10:g.87933253T>G (hg38)
• ERepo: CA000475/MONDO:0017623/003
• PubMed: PMID:9425889 ; PMID:11875759 ; PMID:12938083

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933253T>G , CM000672.2:g.87933253T>G	GRCh38
NC_000010.10:g.89693010T>G , CM000672.1:g.89693010T>G	GRCh37
NC_000010.9:g.89682990T>G	NCBI36
NG_007466.2:g.74815T>G , LRG_311:g.74815T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.492+2T>G	ENSP00000514759.2:n.492+2T>G
ENST00000710265.1:c.492+2T>G	ENSP00000518161.1:n.492+2T>G
ENST00000472832.3:c.492+2T>G	ENSP00000483066.2:n.492+2T>G
ENST00000688158.2:n.1227+2T>G
ENST00000688922.2:c.*322+2T>G	ENSP00000508742.2:n.*322+2T>G
ENST00000700021.1:c.447+2T>G	ENSP00000514757.1:n.447+2T>G
ENST00000700022.1:c.492+2T>G	ENSP00000514758.1:n.492+2T>G
ENST00000700029.1:c.326+2T>G
ENST00000706954.1:c.492+2T>G	ENSP00000516674.1:n.492+2T>G
ENST00000706955.1:c.*527+2T>G	ENSP00000516675.1:n.*527+2T>G
ENST00000686459.1:c.492+2T>G	ENSP00000508909.1:n.492+2T>G
ENST00000688158.1:c.*603+2T>G	ENSP00000509254.1:n.*603+2T>G
ENST00000688308.1:c.492+2T>G	ENSP00000508752.1:n.492+2T>G
ENST00000688922.1:c.413+2T>G
ENST00000693560.1:c.1011+2T>G	ENSP00000509861.1:n.1011+2T>G
ENST00000371953.8:c.492+2T>G MANE Select	ENSP00000361021.3:n.492+2T>G
ENST00000371953.7:c.492+2T>G	ENSP00000361021.3:n.492+2T>G
ENST00000498703.1:n.320T>G
ENST00000610634.1:c.390+2T>G	ENSP00000477517.1:n.390+2T>G
NM_000314.5:c.492+2T>G	NP_000305.3:n.492+2T>G
NM_000314.6:c.492+2T>G	NP_000305.3:n.492+2T>G
NM_001304717.2:c.1011+2T>G	NP_001291646.2:n.1011+2T>G
NM_001304718.1:c.-259+2T>G	NP_001291647.1:n.-259+2T>G
XM_006717926.2:c.447+2T>G	XP_006717989.1:n.447+2T>G
XM_011539981.1:c.492+2T>G	XP_011538283.1:n.492+2T>G
XM_011539982.1:c.396+2T>G	XP_011538284.1:n.396+2T>G
XR_945789.1:n.1204+2T>G
XR_945790.1:n.1204+2T>G
XR_945791.1:n.1204+2T>G
NM_000314.7:c.492+2T>G	NP_000305.3:n.492+2T>G
NM_001304717.5:c.1011+2T>G	NP_001291646.4:n.1011+2T>G
NM_001304718.2:c.-259+2T>G	NP_001291647.1:n.-259+2T>G
NM_000314.8:c.492+2T>G MANE Select	NP_000305.3:n.492+2T>G