Canonical Allele Identifier: CA377485510

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2502345
• ClinVar RCV Id: RCV003228764
• gnomAD v4: 10-87960919-A-G
• COSMIC: COSM1968266
• MyVariant Identifiers: chr10:g.89720676A>G (hg19) ; chr10:g.87960919A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960919A>G , CM000672.2:g.87960919A>G	GRCh38
NC_000010.10:g.89720676A>G , CM000672.1:g.89720676A>G	GRCh37
NC_000010.9:g.89710656A>G	NCBI36
NG_007466.2:g.102481A>G , LRG_311:g.102481A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.920A>G	ENSP00000514759.2:p.Asn307Ser
ENST00000710265.1:c.827A>G	ENSP00000518161.1:p.Asn276Ser
ENST00000472832.3:c.827A>G	ENSP00000483066.2:p.Asn276Ser
ENST00000688158.2:n.1562A>G
ENST00000688922.2:c.*657A>G	ENSP00000508742.2:n.*657A>G
ENST00000700021.1:c.782A>G	ENSP00000514757.1:p.Asn261Ser
ENST00000700022.1:c.*166A>G	ENSP00000514758.1:n.*166A>G
ENST00000700023.1:n.1985A>G
ENST00000700024.1:n.2219A>G
ENST00000700025.1:n.1596A>G
ENST00000700026.1:n.464A>G
ENST00000700029.1:c.754A>G
ENST00000706954.1:c.827A>G	ENSP00000516674.1:p.Asn276Ser
ENST00000706955.1:c.*862A>G	ENSP00000516675.1:n.*862A>G
ENST00000686459.1:c.*413A>G	ENSP00000508909.1:n.*413A>G
ENST00000688158.1:c.*938A>G	ENSP00000509254.1:n.*938A>G
ENST00000688308.1:c.827A>G	ENSP00000508752.1:p.Asn276Ser
ENST00000688922.1:c.748A>G
ENST00000693560.1:c.1346A>G	ENSP00000509861.1:p.Asn449Ser
ENST00000371953.8:c.827A>G MANE Select	ENSP00000361021.3:p.Asn276Ser
ENST00000371953.7:c.827A>G	ENSP00000361021.3:p.Asn276Ser
ENST00000472832.2:c.254A>G	ENSP00000483066.1:p.Asn85Ser
NM_000314.5:c.827A>G	NP_000305.3:p.Asn276Ser
NM_000314.6:c.827A>G	NP_000305.3:p.Asn276Ser
NM_001304717.2:c.1346A>G	NP_001291646.2:p.Asn449Ser
NM_001304718.1:c.236A>G	NP_001291647.1:p.Asn79Ser
XM_006717926.2:c.782A>G	XP_006717989.1:p.Asn261Ser
XM_011539981.1:c.827A>G	XP_011538283.1:p.Asn276Ser
XM_011539982.1:c.731A>G	XP_011538284.1:p.Asn244Ser
XR_945791.1:n.1397A>G
NM_000314.7:c.827A>G	NP_000305.3:p.Asn276Ser
NM_001304717.5:c.1346A>G	NP_001291646.4:p.Asn449Ser
NM_001304718.2:c.236A>G	NP_001291647.1:p.Asn79Ser
NM_000314.8:c.827A>G MANE Select	NP_000305.3:p.Asn276Ser