Canonical Allele Identifier: CA377484731

Gene: PTEN

Linked Data

• ClinVar Variation Id: 427621
• ClinVar RCV Id: RCV000516099 ; RCV001172260 ; RCV002356807
• dbSNP Id: rs727504114
• COSMIC: COSM428086
• MyVariant Identifiers: chr10:g.89712018T>C (hg19) ; chr10:g.87952261T>C (hg38)
• ERepo: CA377484731/MONDO:0017623/003
• PubMed: PMID:28677221

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952261T>C , CM000672.2:g.87952261T>C	GRCh38
NC_000010.10:g.89712018T>C , CM000672.1:g.89712018T>C	GRCh37
NC_000010.9:g.89701998T>C	NCBI36
NG_007466.2:g.93823T>C , LRG_311:g.93823T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.634+2T>C	ENSP00000514759.2:n.634+2T>C
ENST00000710265.1:c.634+2T>C	ENSP00000518161.1:n.634+2T>C
ENST00000472832.3:c.634+2T>C	ENSP00000483066.2:n.634+2T>C
ENST00000688158.2:n.1369+2T>C
ENST00000688922.2:c.*464+2T>C	ENSP00000508742.2:n.*464+2T>C
ENST00000700021.1:c.589+2T>C	ENSP00000514757.1:n.589+2T>C
ENST00000700022.1:c.493-5592T>C	ENSP00000514758.1:n.493-5592T>C
ENST00000700023.1:n.1792+2T>C
ENST00000700024.1:n.2026+2T>C
ENST00000700025.1:n.1403+2T>C
ENST00000700029.1:c.468+2T>C
ENST00000706954.1:c.634+2T>C	ENSP00000516674.1:n.634+2T>C
ENST00000706955.1:c.*669+2T>C	ENSP00000516675.1:n.*669+2T>C
ENST00000686459.1:c.*220+2T>C	ENSP00000508909.1:n.*220+2T>C
ENST00000688158.1:c.*745+2T>C	ENSP00000509254.1:n.*745+2T>C
ENST00000688308.1:c.634+2T>C	ENSP00000508752.1:n.634+2T>C
ENST00000688922.1:c.555+2T>C
ENST00000693560.1:c.1153+2T>C	ENSP00000509861.1:n.1153+2T>C
ENST00000371953.8:c.634+2T>C MANE Select	ENSP00000361021.3:n.634+2T>C
ENST00000371953.7:c.634+2T>C	ENSP00000361021.3:n.634+2T>C
ENST00000472832.2:c.61+2T>C	ENSP00000483066.1:n.61+2T>C
NM_000314.5:c.634+2T>C	NP_000305.3:n.634+2T>C
NM_000314.6:c.634+2T>C	NP_000305.3:n.634+2T>C
NM_001304717.2:c.1153+2T>C	NP_001291646.2:n.1153+2T>C
NM_001304718.1:c.43+2T>C	NP_001291647.1:n.43+2T>C
XM_006717926.2:c.589+2T>C	XP_006717989.1:n.589+2T>C
XM_011539981.1:c.634+2T>C	XP_011538283.1:n.634+2T>C
XM_011539982.1:c.538+2T>C	XP_011538284.1:n.538+2T>C
XR_945791.1:n.1205-5592T>C
NM_000314.7:c.634+2T>C	NP_000305.3:n.634+2T>C
NM_001304717.5:c.1153+2T>C	NP_001291646.4:n.1153+2T>C
NM_001304718.2:c.43+2T>C	NP_001291647.1:n.43+2T>C
NM_000314.8:c.634+2T>C MANE Select	NP_000305.3:n.634+2T>C