Canonical Allele Identifier: CA377486195

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2488626
• ClinVar RCV Id: RCV003200677
• dbSNP Id: rs2132283772
• gnomAD v4: 10-87961122-A-G
• MyVariant Identifiers: chr10:g.89720879A>G (hg19) ; chr10:g.87961122A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961122A>G , CM000672.2:g.87961122A>G	GRCh38
NC_000010.10:g.89720879A>G , CM000672.1:g.89720879A>G	GRCh37
NC_000010.9:g.89710859A>G	NCBI36
NG_007466.2:g.102684A>G , LRG_311:g.102684A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1119+4A>G	ENSP00000514759.2:n.1119+4A>G
ENST00000710265.1:c.1026+4A>G	ENSP00000518161.1:n.1026+4A>G
ENST00000472832.3:c.1030A>G	ENSP00000483066.2:p.Ser344Gly
ENST00000688158.2:n.1761+4A>G
ENST00000688922.2:c.*856+4A>G	ENSP00000508742.2:n.*856+4A>G
ENST00000700021.1:c.981+4A>G	ENSP00000514757.1:n.981+4A>G
ENST00000700022.1:c.*365+4A>G	ENSP00000514758.1:n.*365+4A>G
ENST00000700023.1:n.2184+4A>G
ENST00000700024.1:n.2418+4A>G
ENST00000700025.1:n.1799A>G
ENST00000700026.1:n.667A>G
ENST00000706954.1:c.1026+4A>G	ENSP00000516674.1:n.1026+4A>G
ENST00000706955.1:c.*1061+4A>G	ENSP00000516675.1:n.*1061+4A>G
ENST00000686459.1:c.*612+4A>G	ENSP00000508909.1:n.*612+4A>G
ENST00000688158.1:c.*1137+4A>G	ENSP00000509254.1:n.*1137+4A>G
ENST00000688308.1:c.1026+4A>G	ENSP00000508752.1:n.1026+4A>G
ENST00000688922.1:c.947+4A>G
ENST00000693560.1:c.1545+4A>G	ENSP00000509861.1:n.1545+4A>G
ENST00000371953.8:c.1026+4A>G MANE Select	ENSP00000361021.3:n.1026+4A>G
ENST00000371953.7:c.1026+4A>G	ENSP00000361021.3:n.1026+4A>G
ENST00000472832.2:c.457A>G	ENSP00000483066.1:p.Ser153Gly
NM_000314.5:c.1026+4A>G	NP_000305.3:n.1026+4A>G
NM_000314.6:c.1026+4A>G	NP_000305.3:n.1026+4A>G
NM_001304717.2:c.1545+4A>G	NP_001291646.2:n.1545+4A>G
NM_001304718.1:c.435+4A>G	NP_001291647.1:n.435+4A>G
XM_006717926.2:c.981+4A>G	XP_006717989.1:n.981+4A>G
XM_011539981.1:c.1026+4A>G	XP_011538283.1:n.1026+4A>G
XM_011539982.1:c.930+4A>G	XP_011538284.1:n.930+4A>G
XR_945791.1:n.1596+4A>G
NM_000314.7:c.1026+4A>G	NP_000305.3:n.1026+4A>G
NM_001304717.5:c.1545+4A>G	NP_001291646.4:n.1545+4A>G
NM_001304718.2:c.435+4A>G	NP_001291647.1:n.435+4A>G
NM_000314.8:c.1026+4A>G MANE Select	NP_000305.3:n.1026+4A>G