Canonical Allele Identifier: CA470669334

Gene: PTEN

Linked Data

• dbSNP Id: rs2132276631
• gnomAD v4: 10-87957884-G-A
• MyVariant Identifiers: chr10:g.89717641G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957884G>A , CM000672.2:g.87957884G>A	GRCh38
NC_000010.10:g.89717641G>A , CM000672.1:g.89717641G>A	GRCh37
NC_000010.9:g.89707621G>A	NCBI36
NG_007466.2:g.99446G>A , LRG_311:g.99446G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.666G>A	ENSP00000514759.2:p.Val222=
ENST00000710265.1:c.666G>A	ENSP00000518161.1:p.Val222=
ENST00000472832.3:c.666G>A	ENSP00000483066.2:p.Val222=
ENST00000688158.2:n.1401G>A
ENST00000688922.2:c.*496G>A	ENSP00000508742.2:n.*496G>A
ENST00000700021.1:c.621G>A	ENSP00000514757.1:p.Val207=
ENST00000700022.1:c.*5G>A	ENSP00000514758.1:n.*5G>A
ENST00000700023.1:n.1824G>A
ENST00000700024.1:n.2058G>A
ENST00000700025.1:n.1435G>A
ENST00000700026.1:n.303G>A
ENST00000700029.1:c.500G>A
ENST00000706954.1:c.666G>A	ENSP00000516674.1:p.Val222=
ENST00000706955.1:c.*701G>A	ENSP00000516675.1:n.*701G>A
ENST00000686459.1:c.*252G>A	ENSP00000508909.1:n.*252G>A
ENST00000688158.1:c.*777G>A	ENSP00000509254.1:n.*777G>A
ENST00000688308.1:c.666G>A	ENSP00000508752.1:p.Val222=
ENST00000688922.1:c.587G>A
ENST00000693560.1:c.1185G>A	ENSP00000509861.1:p.Val395=
ENST00000371953.8:c.666G>A MANE Select	ENSP00000361021.3:p.Val222=
ENST00000371953.7:c.666G>A	ENSP00000361021.3:p.Val222=
ENST00000472832.2:c.93G>A	ENSP00000483066.1:p.Val31=
NM_000314.5:c.666G>A	NP_000305.3:p.Val222=
NM_000314.6:c.666G>A	NP_000305.3:p.Val222=
NM_001304717.2:c.1185G>A	NP_001291646.2:p.Val395=
NM_001304718.1:c.75G>A	NP_001291647.1:p.Val25=
XM_006717926.2:c.621G>A	XP_006717989.1:p.Val207=
XM_011539981.1:c.666G>A	XP_011538283.1:p.Val222=
XM_011539982.1:c.570G>A	XP_011538284.1:p.Val190=
XR_945791.1:n.1236G>A
NM_000314.7:c.666G>A	NP_000305.3:p.Val222=
NM_001304717.5:c.1185G>A	NP_001291646.4:p.Val395=
NM_001304718.2:c.75G>A	NP_001291647.1:p.Val25=
NM_000314.8:c.666G>A MANE Select	NP_000305.3:p.Val222=