Canonical Allele Identifier: CA594924218

Gene: PTEN

Linked Data

• dbSNP Id: rs1397069982
• gnomAD v2: 10-89727215-A-G
• gnomAD v3: 10-87967458-A-G
• gnomAD v4: 10-87967458-A-G
• MyVariant Identifiers: chr10:g.89727215A>G (hg19) ; chr10:g.87967458A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87967458A>G , CM000672.2:g.87967458A>G	GRCh38
NC_000010.10:g.89727215A>G , CM000672.1:g.89727215A>G	GRCh37
NC_000010.9:g.89717195A>G	NCBI36
NG_007466.2:g.109020A>G , LRG_311:g.109020A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000710265.1:c.*2227A>G	ENSP00000518161.1:n.*2227A>G
ENST00000688158.2:n.3933A>G
ENST00000706954.1:c.*1986A>G	ENSP00000516674.1:n.*1986A>G
ENST00000706955.1:c.*3233A>G	ENSP00000516675.1:n.*3233A>G
ENST00000688158.1:c.*3309A>G	ENSP00000509254.1:n.*3309A>G
ENST00000693560.1:c.*1986A>G	ENSP00000509861.1:n.*1986A>G
ENST00000371953.8:c.*1986A>G MANE Select	ENSP00000361021.3:n.*1986A>G
ENST00000371953.7:c.*1986A>G	ENSP00000361021.3:n.*1986A>G
NM_000314.5:c.*1986A>G	NP_000305.3:n.*1986A>G
NM_000314.6:c.*1986A>G	NP_000305.3:n.*1986A>G
NM_001304717.2:c.*1986A>G	NP_001291646.2:n.*1986A>G
NM_001304718.1:c.*1986A>G	NP_001291647.1:n.*1986A>G
XM_006717926.2:c.*1986A>G	XP_006717989.1:n.*1986A>G
XM_011539982.1:c.*1986A>G	XP_011538284.1:n.*1986A>G
XR_945791.1:n.3768A>G
NM_000314.7:c.*1986A>G	NP_000305.3:n.*1986A>G
NM_001304717.5:c.*1986A>G	NP_001291646.4:n.*1986A>G
NM_001304718.2:c.*1986A>G	NP_001291647.1:n.*1986A>G
NM_000314.8:c.*1986A>G MANE Select	NP_000305.3:n.*1986A>G